AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsInformation ScienceHealth Care
Muscular Atrophy, SpinalSpinal Muscular Atrophies of ChildhoodSurvival of Motor Neuron 1 ProteinAtrophySMN Complex ProteinsMuscular AtrophySurvival of Motor Neuron 2 ProteinMuscular Disorders, AtrophicBulbo-Spinal Atrophy, X-LinkedNeuronal Apoptosis-Inhibitory ProteinCyclic AMP Response Element-Binding ProteinAnterior Horn CellsRNA-Binding ProteinsMotor NeuronsNerve Tissue ProteinsOptic AtrophyRibonucleoproteins, Small NuclearMotor Neuron DiseaseDEAD Box Protein 20Chromosomes, Human, Pair 5ExonsMultiple System AtrophyCoiled BodiessnRNP Core ProteinsReceptors, AndrogenDisease Models, AnimalSpinal CordPedigreeMuscle, SkeletalBulbar Palsy, ProgressiveMice, TransgenicCharcot-Marie-Tooth DiseaseHeterozygote DetectionOlivopontocerebellar AtrophiesPhenotypeContractureMuscle WeaknessGlycine-tRNA LigaseArthrogryposisNerve DegenerationNeuromuscular DiseasesVocal Cord ParalysisSpinal Cord DiseasesGene DeletionGyrate AtrophyHomozygoteTrinucleotide Repeat ExpansionNeuromuscular Junction DiseasesRNA SplicingMutationElectromyographyNeural ConductionNeuromuscular JunctionGenes, RecessiveGeographic AtrophyTrinucleotide RepeatsGenetic LinkageMagnetic Resonance ImagingGene DosageIntranuclear Inclusion BodiesSural NerveGenes, DominantAmyotrophic Lateral SclerosisMyoclonic Epilepsies, ProgressiveChemistry, AnalyticFasciculationInclusion BodiesAxonsPrenatal DiagnosisUlnar NerveSpliceosomesGenetic CounselingAcanthocytesAlternative SplicingGenetic TestingFurylfuramideRotarod Performance TestValproic AcidPostpoliomyelitis SyndromeOptic Atrophy, Autosomal DominantMutation, MissenseMuscular DystrophiesRespiratory ParalysisHereditary Sensory and Motor NeuropathyMusclesBrainMolecular Sequence DataMuscle DenervationOphthalmoplegiaFibroblastsAclarubicinMuscle Fibers, SkeletalBase SequenceAge of OnsetGenetic TherapyMuscular DiseasesFounder EffectDisease ProgressionHeLa CellsMuscle Strength
Muscular Atrophy, Spinal
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Spinal Muscular Atrophies of Childhood
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
Survival of Motor Neuron 1 Protein
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
Atrophy
Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
SMN Complex Proteins
A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.
Muscular Atrophy
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
Survival of Motor Neuron 2 Protein
A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.
Muscular Disorders, Atrophic
Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).
Bulbo-Spinal Atrophy, X-Linked
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
Neuronal Apoptosis-Inhibitory Protein
An inhibitor of apoptosis protein that was initially identified during analysis of CHROMOSOME DELETIONS associated with SPINAL MUSCULAR ATROPHY. Naip contains a nucleotide binding oligomerization domain and a carboxy-terminal LEUCINE rich repeat.
Cyclic AMP Response Element-Binding Protein
A protein that has been shown to function as a calcium-regulated transcription factor as well as a substrate for depolarization-activated CALCIUM-CALMODULIN-DEPENDENT PROTEIN KINASES. This protein functions to integrate both calcium and cAMP signals.
Anterior Horn Cells
MOTOR NEURONS in the anterior (ventral) horn of the SPINAL CORD which project to SKELETAL MUSCLES.
RNA-Binding Proteins
Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.
Motor Neurons
Neurons which activate MUSCLE CELLS.
Nerve Tissue Proteins
Optic Atrophy
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
Ribonucleoproteins, Small Nuclear
Highly conserved nuclear RNA-protein complexes that function in RNA processing in the nucleus, including pre-mRNA splicing and pre-mRNA 3'-end processing in the nucleoplasm, and pre-rRNA processing in the nucleolus (see RIBONUCLEOPROTEINS, SMALL NUCLEOLAR).
Motor Neuron Disease
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
DEAD Box Protein 20
A multifunctional protein that is both a DEAD-box RNA helicase and a component of the SMN protein complex.
Chromosomes, Human, Pair 5
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Exons
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Multiple System Atrophy
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
Coiled Bodies
A distinct subnuclear domain enriched in splicesomal snRNPs (RIBONUCLEOPROTEINS, SMALL NUCLEAR) and p80-coilin.
snRNP Core Proteins
The protein components that constitute the common core of small nuclear ribonucleoprotein particles. These proteins are commonly referred as Sm nuclear antigens due to their antigenic nature.
Receptors, Androgen
Proteins, generally found in the CYTOPLASM, that specifically bind ANDROGENS and mediate their cellular actions. The complex of the androgen and receptor migrates to the CELL NUCLEUS where it induces transcription of specific segments of DNA.
Disease Models, Animal
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Spinal Cord
A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.
Pedigree
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Muscle, Skeletal
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
Bulbar Palsy, Progressive
A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)
Mice, Transgenic
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Charcot-Marie-Tooth Disease
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Heterozygote Detection
Identification of genetic carriers for a given trait.
Olivopontocerebellar Atrophies
A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Contracture
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
Muscle Weakness
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Glycine-tRNA Ligase
An enzyme that activates glycine with its specific transfer RNA. EC 6.1.1.14.
Arthrogryposis
Persistent flexure or contracture of a joint.
Nerve Degeneration
Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
Neuromuscular Diseases
A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
Vocal Cord Paralysis
Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA.
Spinal Cord Diseases
Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.
Gene Deletion
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Gyrate Atrophy
Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
Homozygote
An individual in which both alleles at a given locus are identical.
Trinucleotide Repeat Expansion
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
Neuromuscular Junction Diseases
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
RNA Splicing
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.
Mutation
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Electromyography
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
Neural Conduction
The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.
Neuromuscular Junction
The synapse between a neuron and a muscle.
Genes, Recessive
Genes that influence the PHENOTYPE only in the homozygous state.
Geographic Atrophy
A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.
Trinucleotide Repeats
Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
Genetic Linkage
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Magnetic Resonance Imaging
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Gene Dosage
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Intranuclear Inclusion Bodies
Circumscribed masses of foreign or metabolically inactive materials, within the CELL NUCLEUS. Some are VIRAL INCLUSION BODIES.
Sural Nerve
A branch of the tibial nerve which supplies sensory innervation to parts of the lower leg and foot.
Genes, Dominant
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Amyotrophic Lateral Sclerosis
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
Myoclonic Epilepsies, Progressive
A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
Chemistry, Analytic
The branch of chemistry dealing with detection (qualitative) and determination (quantitative) of substances. (Grant & Hackh's Chemical Dictionary, 5th ed)
Fasciculation
Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations can often by visualized and take the form of a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)
Inclusion Bodies
A generic term for any circumscribed mass of foreign (e.g., lead or viruses) or metabolically inactive materials (e.g., ceroid or MALLORY BODIES), within the cytoplasm or nucleus of a cell. Inclusion bodies are in cells infected with certain filtrable viruses, observed especially in nerve, epithelial, or endothelial cells. (Stedman, 25th ed)
Axons
Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.
Prenatal Diagnosis
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Ulnar Nerve
A major nerve of the upper extremity. In humans, the fibers of the ulnar nerve originate in the lower cervical and upper thoracic spinal cord (usually C7 to T1), travel via the medial cord of the brachial plexus, and supply sensory and motor innervation to parts of the hand and forearm.
Spliceosomes
Organelles in which the splicing and excision reactions that remove introns from precursor messenger RNA molecules occur. One component of a spliceosome is five small nuclear RNA molecules (U1, U2, U4, U5, U6) that, working in conjunction with proteins, help to fold pieces of RNA into the right shapes and later splice them into the message.
Genetic Counseling
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
Acanthocytes
Erythrocytes with protoplasmic projections giving the cell a thorny appearance.
Alternative Splicing
A process whereby multiple RNA transcripts are generated from a single gene. Alternative splicing involves the splicing together of other possible sets of EXONS during the processing of some, but not all, transcripts of the gene. Thus a particular exon may be connected to any one of several alternative exons to form a mature RNA. The alternative forms of mature MESSENGER RNA produce PROTEIN ISOFORMS in which one part of the isoforms is common while the other parts are different.
Genetic Testing
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Furylfuramide
Used formerly as antimicrobial food additive. It causes mutations in many cell cultures and may be carcinogenic.
Rotarod Performance Test
A performance test based on forced MOTOR ACTIVITY on a rotating rod, usually by a rodent. Parameters include the riding time (seconds) or endurance. Test is used to evaluate balance and coordination of the subjects, particular in experimental animal models for neurological disorders and drug effects.
Valproic Acid
A fatty acid with anticonvulsant properties used in the treatment of epilepsy. The mechanisms of its therapeutic actions are not well understood. It may act by increasing GAMMA-AMINOBUTYRIC ACID levels in the brain or by altering the properties of voltage dependent sodium channels.
Postpoliomyelitis Syndrome
A syndrome characterized by new neuromuscular symptoms that occur at least 15 years after clinical stability has been attained in patients with a prior history of symptomatic poliomyelitis. Clinical features include new muscular weakness and atrophy of the limbs, bulbar innervated musculature, and muscles of respiration, combined with excessive fatigue, joint pain, and reduced stamina. The process is marked by slow progression and periods of stabilization. (From Ann NY Acad Sci 1995 May 25;753:68-80)
Optic Atrophy, Autosomal Dominant
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Mutation, Missense
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Muscular Dystrophies
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Respiratory Paralysis
Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.
Hereditary Sensory and Motor Neuropathy
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Muscles
Contractile tissue that produces movement in animals.
Brain
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Muscle Denervation
The resection or removal of the innervation of a muscle or muscle tissue.
Ophthalmoplegia
Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.
Fibroblasts
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
Aclarubicin
An anthracycline produced by Streptomyces galilaeus. It has potent antineoplastic activity.
Muscle Fibers, Skeletal
Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.
Base Sequence
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Age of Onset
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Genetic Therapy
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
Muscular Diseases
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.
Founder Effect
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Disease Progression
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
HeLa Cells
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
Muscle Strength
The amount of force generated by MUSCLE CONTRACTION. Muscle strength can be measured during isometric, isotonic, or isokinetic contraction, either manually or using a device such as a MUSCLE STRENGTH DYNAMOMETER.
Motor Activity
The physical activity of a human or an animal as a behavioral phenomenon.
Neurodegenerative Diseases
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
Heterogeneous-Nuclear Ribonucleoprotein Group A-B
A class of closely related heterogeneous-nuclear ribonucleoproteins of approximately 34-40 kDa in size. Although they are generally found in the nucleoplasm, they also shuttle between the nucleus and the cytoplasm. Members of this class have been found to have a role in mRNA transport, telomere biogenesis and RNA SPLICING.
Chromosome Mapping
Any method used for determining the location of and relative distances between genes on a chromosome.
Heterozygote
An individual having different alleles at one or more loci regarding a specific character.
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
RNA, Messenger
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
DNA Mutational Analysis
Biochemical identification of mutational changes in a nucleotide sequence.
Mice, Knockout
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Hindlimb Suspension
Technique for limiting use, activity, or movement by immobilizing or restraining animal by suspending from hindlimbs or tails. This immobilization is used to simulate some effects of reduced gravity and study weightlessness physiology.
Muscle Strength Dynamometer
A device that measures MUSCLE STRENGTH during muscle contraction, such as gripping, pushing, and pulling. It is used to evaluate the health status of muscle in sports medicine or physical therapy.
Gene Expression Regulation
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups. (1/1234)

The locus for the X-borne type of Charcot-Marie-Tooth muscular atrophy is not close to the Xg locus and probably not within direct measurable distance of it.  (+info)

Motor nerve conduction velocity in spinal muscular atrophy of childhood. (2/1234)

The ulnar and posterior tibial conduction velocities were measured in 29 children with spinal muscular atrophy, 14 of whom had the servere form of the disease. The ulnar nerve velocity was slow in 12 of the 14 severely affected infants, but normal or fast in 11 of 14 children less severely affected. The corresponding results for the posterior tibial nerve were slow velocities in 11 of 12 infants in the severe group and normal or fast in all 11 infants less severely affected. The difficulty in distinguishing infantile spinal muscular atrophy from peripheral neuropathy is emphasized.  (+info)

Formation of polyglutamine inclusions in non-CNS tissue. (3/1234)

Huntington's disease (HD) is one of a class of inherited progressive neurodegenerative disorders that are caused by a CAG/polyglutamine repeat expansion. We have previously generated mice that are transgenic for exon 1 of the HD gene carrying highly expanded CAG repeats which develop a progressive movement disorder and weight loss with similarities to HD. Neuronal inclusions composed of the exon 1 protein and ubiquitin are present in specific brain regions prior to onset of the phenotype, which in turn occurs long before specific neurodegeneration can be detected. In this report we have extended the search for polyglutamine inclusions to non-neuronal tissues. Outside the central nervous system (CNS), inclusions were identified in a variety of post-mitotic cells. This is consistent with a concentration-dependent nucleation and aggregation model of inclusion formation and indicates that brain-specific factors are not necessary for this process. To possibly gain insights into the wasting that is observed in the human disease, we have conducted a detailed analysis of the timing and progression of inclusion formation in skeletal muscle and an investigation into the cause of the severe muscle atrophy that occurs in the mouse model. The formation of inclusions in non-CNS tissues will be particularly useful with respect to in vivo monitoring of pharmaceutical agents selected for their ability to prevent polyglutamine aggregation in vitro, without the requirement that the agent can cross the blood-brain barrier in the first instance.  (+info)

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. (4/1234)

We recently described an autosomal dominant inclusion-body myopathy characterized by congenital joint contractures, external ophthalmoplegia, and predominantly proximal muscle weakness. A whole-genome scan, performed with 161 polymorphic markers and with DNA from 40 members of one family, indicated strong linkage for markers on chromosome 17p. After analyses with additional markers in the region and with DNA from eight additional family members, a maximum LOD score (Zmax) was detected for marker D17S1303 (Zmax=7.38; recombination fraction (theta)=0). Haplotype analyses showed that the locus (Genome Database locus name: IBM3) is flanked distally by marker D17S945 and proximally by marker D17S969. The positions of cytogenetically localized flanking markers suggest that the location of the IBM3 gene is in chromosome region 17p13.1. Radiation hybrid mapping showed that IBM3 is located in a 2-Mb chromosomal region and that the myosin heavy-chain (MHC) gene cluster, consisting of at least six genes, co-localizes to the same region. This localization raises the possibility that one of the MHC genes clustered in this region may be involved in this disorder.  (+info)

Atrophy of the posterior cricoarytenoid muscle as an indicator of recurrent laryngeal nerve palsy. (5/1234)

BACKGROUND AND PURPOSE: The posterior cricoarytenoid (PCA) muscle is one of the intrinsic muscles of the larynx innervated by the recurrent laryngeal nerve. As such, recurrent laryngeal nerve palsy should not only result in paralysis of the true vocal cord or thyroarytenoid muscle but also in a similar change in the PCA muscle. The ability of CT and MR imaging to depict denervation atrophy in the PCA muscle in patients with recurrent laryngeal nerve palsy was evaluated. METHODS: Two investigators reviewed the CT and/or MR studies of 20 patients with a clinical history of vocal cord paralysis. The appearance of the PCA muscle was given a rating of 0, 1, 2, 3, or 4, with 0 being definitely normal and 4 being definitely abnormal or atrophic. Each study was also reviewed for the presence or absence of other features of vocal cord paralysis: thyroarytenoid muscle atrophy, anteromedial deviation of the arytenoid cartilage, an enlarged piriform sinus and laryngeal ventricle, and a paramedian cord. RESULTS: Atrophy of the PCA muscle was shown unequivocally in 65% of the cases and was most likely present in an additional 20%. The frequency with which other features of vocal cord paralysis were seen was as follows: thyroarytenoid atrophy, 95%; anteromedial deviation of the arytenoid cartilage, 70%; enlarged piriform sinus, 100%; enlarged laryngeal ventricle, 90%; and a paramedian cord, 100%. CONCLUSION: Atrophy of the PCA muscle may be commonly documented on CT and MR studies in patients with recurrent laryngeal nerve palsy and vocal cord paralysis, and therefore should be part of the constellation of imaging features of vocal cord paralysis. This finding is particularly useful when other imaging findings of vocal cord paralysis are absent or equivocal.  (+info)

Evaluation of signals activating ubiquitin-proteasome proteolysis in a model of muscle wasting. (6/1234)

The ubiquitin-proteasome proteolytic system is stimulated in conditions causing muscle atrophy. Signals initiating this response in these conditions are unknown, although glucocorticoids are required but insufficient to stimulate muscle proteolysis in starvation, acidosis, and sepsis. To identify signals that activate this system, we studied acutely diabetic rats that had metabolic acidosis and increased corticosterone production. Protein degradation was increased 52% (P < 0.05), and mRNA levels encoding ubiquitin-proteasome system components, including the ubiquitin-conjugating enzyme E214k, were higher (transcription of the ubiquitin and proteasome subunit C3 genes in muscle was increased by nuclear run-off assay). In diabetic rats, prevention of acidemia by oral NaHCO3 did not eliminate muscle proteolysis. Adrenalectomy blocked accelerated proteolysis and the rise in pathway mRNAs; both responses were restored by administration of a physiological dose of glucocorticoids to adrenalectomized, diabetic rats. Finally, treating diabetic rats with insulin for >/=24 h reversed muscle proteolysis and returned pathway mRNAs to control levels. Thus acidification is not necessary for these responses, but glucocorticoids and a low insulin level in tandem activate the ubiquitin-proteasome proteolytic system.  (+info)

Space travel directly induces skeletal muscle atrophy. (7/1234)

Space travel causes rapid and pronounced skeletal muscle wasting in humans that reduces their long-term flight capabilities. To develop effective countermeasures, the basis of this atrophy needs to be better understood. Space travel may cause muscle atrophy indirectly by altering circulating levels of factors such as growth hormone, glucocorticoids, and anabolic steroids and/or by a direct effect on the muscle fibers themselves. To determine whether skeletal muscle cells are directly affected by space travel, tissue-cultured avian skeletal muscle cells were tissue engineered into bioartificial muscles and flown in perfusion bioreactors for 9 to 10 days aboard the Space Transportation System (STS, i.e., Space Shuttle). Significant muscle fiber atrophy occurred due to a decrease in protein synthesis rates without alterations in protein degradation. Return of the muscle cells to Earth stimulated protein synthesis rates of both muscle-specific and extracellular matrix proteins relative to ground controls. These results show for the first time that skeletal muscle fibers are directly responsive to space travel and should be a target for countermeasure development.  (+info)

Physical activity, protein intake, and appendicular skeletal muscle mass in older men. (8/1234)

BACKGROUND: Aging is associated with physical inactivity, low energy intake, and loss of skeletal muscle mass. It is not clear whether regular physical activity and adequate dietary protein intake can attenuate the loss of skeletal muscle mass. OBJECTIVE: We hypothesized that the maintenance of physical activity and dietary protein intake would attenuate the age-related decline in total appendicular skeletal muscle mass. DESIGN: Total appendicular skeletal muscle mass was determined by dual-energy X-ray absorptiometry in 44 healthy, older white men aged 49-85 y. Physical activity level was determined by using a uniaxial accelerometer over a 9-d period. Dietary protein intake was estimated from a 3-d food record. RESULTS: Aging was inversely associated with total appendicular skeletal muscle mass in older men (r = -0.43; slope: -0. 119 +/- 0.039 kg/y; P < 0.01). An effect of age on appendicular skeletal muscle mass persisted after standing height and physical activity were controlled for (r = -0.34; slope: -0.120 +/- 0.052 kg/y; P = 0.03). Furthermore, an effect of age on appendicular skeletal muscle mass persisted after standing height and dietary protein intake per kilogram body mass was controlled for (r = -0.41; slope: -0.127 +/- 0.045 kg/y; P < 0.01). CONCLUSIONS: Maintaining regular physical activity and adequate protein intake may not offset the age-related loss of appendicular skeletal muscle mass in older men. Prospective studies are needed to confirm these results and to determine whether anabolic physical activity (eg, strength training) can attenuate the age-related loss of muscle mass in the elderly.  (+info)

Dietary supplementation with shiikuwasha extract attenuates dexamethasone-induced skeletal muscle atrophy in aged rats |...Dietary supplementation with shiikuwasha extract attenuates dexamethasone-induced skeletal muscle atrophy in aged rats |...
Skeletal muscle atrophy is caused by a variety of diseases and conditions. In particular, skeletal muscle atrophy in the elderly contributes to a loss of independence with advanced age and increases the risk of falling. However, the effect of food consumed on a daily basis on skeletal muscle atrophy has been the focus of little research. In this study, the effects of dietary supplementation with shiikuwasha extract or grape extract on dexamethasone-induced skeletal muscle atrophy were evaluated in aged rats. Aged male rats (15-month-old) were fed a diet supplemented with either 1 % shiikuwasha extract or 1 % grape extract for 19 days. During the last 5 days of the feeding period, rats were injected with dexamethasone to induce muscle atrophy. Body weight and hind-limb muscle weight were significantly decreased by dexamethasone treatment. The supplementation of shiikuwasha extract showed no effect on body weight loss, but markedly attenuated tibialis anterior muscle weight loss induced by dexamethasone.
https://springerplus.springeropen.com/articles/10.1186/s40064-016-2427-7
Mechanisms for fiber-type specificity of skeletal muscle atrophy<...Mechanisms for fiber-type specificity of skeletal muscle atrophy<...
TY - JOUR. T1 - Mechanisms for fiber-type specificity of skeletal muscle atrophy. AU - Wang, Yichen. AU - Pessin, Jeffrey E.. PY - 2013/5/1. Y1 - 2013/5/1. N2 - PURPOSE OF REVIEW: There are a variety of pathophysiologic conditions that are known to induce skeletal muscle atrophy. However, muscle wasting can occur through multiple distinct signaling pathways with differential sensitivity between selective skeletal muscle fiber subtypes. This review summarizes some of the underlying molecular mechanisms responsible for fiber-specific muscle mass regulation. RECENT FINDINGS: Peroxisome proliferator-activated receptor gamma coactivator 1-alpha protects slow-twitch oxidative fibers from denervation/immobilization (disuse)-induced muscle atrophies. Nutrient-related muscle atrophies, such as those induced by cancer cachexia, sepsis, chronic heart failure, or diabetes, are largely restricted to fast-twitch glycolytic fibers, of which the underlying mechanism is usually related to abnormality of protein ...
https://einstein.pure.elsevier.com/en/publications/mechanisms-for-fiber-type-specificity-of-skeletal-muscle-atrophy-2
Angiotensin-(1-7) decreases skeletal muscle atrophy induced by angiotensin II through a Mas receptor-dependent mechanism |...Angiotensin-(1-7) decreases skeletal muscle atrophy induced by angiotensin II through a Mas receptor-dependent mechanism |...
Skeletal muscle atrophy is a pathological condition characterized by the loss of strength and muscle mass, an increase in myosin heavy chain (MHC) degradation and increase in the expression of two muscle-specific ubiquitin ligases: atrogin-1 and MuRF-1. Angiotensin II (AngII) induces muscle atrophy. Angiotensin-(1-7) [Ang-(1-7)], through its receptor Mas, produces the opposite effects than AngII. We assessed the effects of Ang-(1-7) on the skeletal muscle atrophy induced by AngII. Our results show that Ang-(1-7), through Mas, prevents the effects induced by AngII in muscle gastrocnemius: the decrease in the fibre diameter, muscle strength and MHC levels and the increase in atrogin-1 and MuRF-1. Ang-(1-7) also induces AKT phosphorylation. In addition, our analysis in vitro using C2C12 myotubes shows that Ang-(1-7), through a mechanism dependent on Mas, prevents the decrease in the levels of MHC and the increase in the expression of the atrogin-1 and MuRF-1, both induced by AngII. Ang-(1-7) ...
http://www.clinsci.org/content/128/5/307
Cinnamaldehyde regulates H2O2‐induced skeletal muscle atrophy by ameliorating the proteolytic and antioxidant defense systems -...Cinnamaldehyde regulates H2O2‐induced skeletal muscle atrophy by ameliorating the proteolytic and antioxidant defense systems -...
Skeletal muscle atrophy/wasting is associated with impaired protein metabolism in diverse physiological and pathophysiological conditions. Elevated levels of reactive oxygen species (ROS), disturbed redox status, and weakened antioxidant defense system are the major contributing factors toward atrophy. Regulation of protein metabolism by controlling ROS levels and its associated catabolic pathways may help in treating atrophy and related clinical conditions. Although cinnamaldehyde (CNA) enjoys the established status of antioxidant and its role in ROS management is reported, impact of CNA on skeletal muscle atrophy and related pathways is still unexplored. In the current study, the impact of CNA on C2C12 myotubes and the possible protection of cultured cells from H2O2‐induced atrophy is examined. Myotubes were treated with H2O2 in the presence and absence of CNA and the changes in the antioxidative, proteolytic systems, and mitochondrial functions were scored. Morphological analysis showed ...
http://ashwanimittal.com/?p=262
Lung cancer-derived extracellular vesicles induced myotube atrophy and adipocyte lipolysis via the extracellular IL-6-mediated...Lung cancer-derived extracellular vesicles induced myotube atrophy and adipocyte lipolysis via the extracellular IL-6-mediated...
Hu, W, et al. (2019) Lung cancer-derived extracellular vesicles induced myotube atrophy and adipocyte lipolysis via the extracellular IL-6-mediated STAT3 pathway. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Apr 17; 1864(8):1091-1102. PM ID: ...
https://systembio.com/?citation=lung-cancer-derived-extracellular-vesicles-induced-myotube-atrophy-and-adipocyte-lipolysis-via-the-extracellular-il-6-mediated-stat3-pathway
Muscle Atrophy Archives - FlexTone
Muscle Atrophy can be measured through the use of CT Scans, pain or loss of weight.. TENS & EMS to treat Muscle Atrophy?. Through the use of Electrical Muscle stimulation, doctors are able to reverse and prevent muscle atrophy by stimulating the muscles without the need for adverse stress and discomfort. For years experts have looked for effective ways to cure and prevent muscle atrophy. Whether through the use of chemical enhancers, such as anabolic steroids or through physical therapy, doctors and scientists have repeatedly turned to the stimulation effects of EMS therapy from TENS units in order to prevent and treat atrophy.. The widespread acceptance of EMS as an Atrophy fighting tool is highly supported by emerging research. For example, a study conducted in 2011 concluded that. EMS is effective in maintaining and increasing muscle thickness, and strength post-surgery in order to prevent muscle atrophy.. Graduate School of Human and Environmental Studies. More often than not, muscle ...
https://stimrx.com/category/muscle-atrophy/
Muscle atrophy - WikipediaMuscle atrophy - Wikipedia
Muscle atrophy is defined as a decrease in the mass of the muscle; it can be a partial or complete wasting away of muscle, and is most commonly experienced when persons suffer temporary disabling circumstances such as being restricted in movement and/or confined to bed as when hospitalized. When a muscle atrophies, this leads to muscle weakness, since the ability to exert force is related to mass. Modern medicines understanding of the quick onset of muscle atrophy is a major factor behind the practice of getting hospitalized patients out of bed and moving about as active as possible as soon as is feasible, despite sutures, wounds, broken bones and pain. Muscle atrophy results from a co-morbidity of several common diseases, including cancer, AIDS, congestive heart failure, COPD (chronic obstructive pulmonary disease), renal failure, and severe burns; patients who have cachexia in these disease settings have a poor prognosis. Moreover, starvation eventually leads to muscle atrophy. Disuse of ...
https://en.wikipedia.org/wiki/Muscle_atrophy
Nonspecific Muscle Fiber Atrophy Causes & Reasons - SymptomaNonspecific Muscle Fiber Atrophy Causes & Reasons - Symptoma
Nonspecific Muscle Fiber Atrophy Symptom Checker: Possible causes include Singleton Merten Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
https://www.symptoma.com/en/ddx/nonspecific-muscle-fiber-atrophy
What is Muscle atrophy | All you need to know - MuscleAtrophy.netWhat is Muscle atrophy | All you need to know - MuscleAtrophy.net
Muscle atrophy or muscle wasting, leads to reduction of muscle tissue. Muscle atrophy caused by nerve problem is known as neurogenic atrophy.
http://muscleatrophy.net/what-is-muscle-atrophy-4/
Glucocorticoid-induced skeletal muscle atrophyGlucocorticoid-induced skeletal muscle atrophy
Many pathological states characterized by muscle atrophy (e.g., sepsis, cachexia, starvation, metabolic acidosis and severe insulinopenia) are associated with an increase in circulating glucocorticoids (GC) levels, suggesting that GC could trigger the muscle atrophy observed in these conditions. GC- …
https://pubmed.ncbi.nlm.nih.gov/23806868/
Muscle atrophy in patients with Type 2 Diabetes Mellitus: Roles of inf by Ben D. Perry, Marissa K. Caldow et al.Muscle atrophy in patients with Type 2 Diabetes Mellitus: Roles of inf by Ben D. Perry, Marissa K. Caldow et al.
Muscle atrophy is caused by an imbalance in contractile protein synthesis and degradation which can be triggered by various conditions including Type 2 Diabetes Mellitus ( T2DM ). Reduced muscle quality in patients with T2DM adversely affects muscle function, the capacity to perform activities of daily living, quality of life and ultimately may increase the risk of premature mortality. Systemic inflammation initiated by obesity and prolonged overnutrition not only contributes to insulin resistance typical of T2DM, but also promotes muscle atrophy via decreased muscle protein synthesis and increased ubiquitin-proteasome, lysosomal-proteasome and caspase 3- mediated protein degradation. Emerging evidence suggests that the inflammation-sensitive Nuclear Factor κ B ( NF-κB ) and Signal Transducer and Activator of Transcription 3 ( STAT3 ) pathways may contribute to muscle atrophy in T2DM. In contrast, exercise appears to be an effective tool in promoting muscle hypertrophy, in part due to its effect on
http://researchbank.acu.edu.au/fhs_pub/6037/
Muscle Atrophy - Notes ReadMuscle Atrophy - Notes Read
Medical consultation is always required if muscle atrophy occurs . All the more so if you suffered from some of the diseases associated with the disorder.. By muscle atrophy is meant the decrease in muscle mass, in terms of both volume and functionality, due to a reduction in the cellular and intercellular substance that make up the muscle. The causes of muscle atrophy can be physiological (think of aging), or pathological.. ...
https://notesread.com/muscle-atrophy/
Muscle Loss Treatment | Muscle Atrophy Therapy | Danville, CA
Muscle Loss Treatments and Muscle Atrophy Therapy experts in Danville, CA treat muscle loss with bio identical hormone replacement therapy.
https://www.anti-aging-bhrt.com/danville/ca/hormone-replacement-therapy-for-muscle-loss.html
Muscle Loss Treatment | Muscle Atrophy Therapy | Aldie, VA
Muscle Loss Treatments and Muscle Atrophy Therapy experts in Aldie, VA treat muscle loss with bio identical hormone replacement therapy.
https://www.anti-aging-bhrt.com/aldie/va/hormone-replacement-therapy-for-muscle-loss.html
Muscle Atrophy: Causes, Symptoms, Diagnosis and TreatmentMuscle Atrophy: Causes, Symptoms, Diagnosis and Treatment
Understand about Muscle atrophy, its classification, the risk factors associated, Muscle atrophy symptoms, causes, diagnosis, and treatment options.
https://www.healthadvicer.com/muscle-atrophy.html
Questions about Muscle AtrophyQuestions about Muscle Atrophy
Questions and answers about Muscle Atrophy. Get your questions answered and see past contributions about Muscle Atrophy by fitness and wellness professionals.
http://www.ideafit.com/answers/topic/muscle-atrophy
What Causes Leg Muscle Atrophy? | LIVESTRONG.COMWhat Causes Leg Muscle Atrophy? | LIVESTRONG.COM
Muscle atrophy is a loss of muscle tissue due to disuse, disease or injury. A decrease in physical activity can lead to muscle loss in as little as 72...
https://www.livestrong.com/article/347887-leg-muscle-atrophy/
Addressing Muscle Atrophy in Post-op Knee Patients - mTriggerAddressing Muscle Atrophy in Post-op Knee Patients - mTrigger
Muscle atrophy is a hurdle all musculoskeletal injuries can bring about. Understanding the cause of and options to work against atrophy is absolutely critical to deciding on an effective recovery path for patients. Above, Russ Paine, PT and Dr. Kevin Wilk discuss:. ...
https://www.mtrigger.com/atrophyinpostopknee/
Protein interaction drives muscle atrophy | Iowa Now
Although muscle atrophy is very common, the molecular pathways that cause it, and that might be targeted to create therapies, are complicated and not well understood. A new University of Iowa study has identified a muscle enzyme not previously linked to muscle wasting as a key player in the process.
https://now.uiowa.edu/2016/07/protein-interaction-drives-muscle-atrophy
Plus itPlus it
The salient findings from this study are that (1) disuse caused resistance to dTC, the magnitude of which decreased with duration of disuse; (2) the fiber atrophy that follows disuse is not accompanied by a corresponding decrease in the size of the neuromuscular junction, hence disused fibers in effect have larger endplates relative to fiber size; (3) the up-regulation of membrane AChRs induced by chronic disuse is transient and is preceded by a more transient increase in the expression of transcripts encoding all five (including the γ) subunits of the AChR; and (4) the resistance to NDMRs produced by disuse can be explained in part by the changes in membrane AChRs, muscle mass, fiber size and the ratio of endplate size to fiber size. Although surgical trauma to muscles and the associated inflammation have been shown to increase sensitivity to agonist drugs, an indirect pharmacologic evidence of AChR proliferation (Katz and Miledi, 1964;Jones and Vrbova, 1974), it is unlikely that they or ...
http://jpet.aspetjournals.org/content/283/2/443
What medical condition would cause proximal muscle atrophy and fat gut? - Answered by top doctors on HealthTapWhat medical condition would cause proximal muscle atrophy and fat gut? - Answered by top doctors on HealthTap
Seeing a physician is important - the cause needs to be determined in order to treat. Would you like to video or text chat with me? ...
https://www.healthtap.com/user_questions/163299-what-medical-condition-would-cause-proximal-muscle-atrophy-and-fat-gut
Anesthesia and Spinal Muscle AtrophyAnesthesia and Spinal Muscle Atrophy
The perioperative risks can be considerable and are mainly related to the respiratory system, from respiratory failure to difficult/impossible intubation.
https://pubmed.ncbi.nlm.nih.gov/23601145/
Muscle Atrophy - Knowing NeuronsMuscle Atrophy - Knowing Neurons
We strive to make neuroscience accessible to anyone interested in learning about the brain. Here, you can delve into the mind via stories, infographics, interviews, and more!. Learn more about who we are, what we do, and why we do it.. ...
https://knowingneurons.com/tag/muscle-atrophy/
Roundworms may be the answer to bone, muscle atrophy in space | CosmosoRoundworms may be the answer to bone, muscle atrophy in space | Cosmoso
Brett Smith for redOrbit.com - Your Universe Online For the first time in history, it may actually be a good thing to tell someone, Ive got worms. NASA
https://cosmoso.net/roundworms-may-be-the-answer-to-bone-muscle-atrophy-in-space/
Auno.org - Item Database - Muscle AtrophyAuno.org - Item Database - Muscle Atrophy
Slows down the attacking speed of the target by lowering initiatives by 681 points. This also decreases the amount of damage inflicted each hit by 9 points ...
https://auno.org/ao/db.php?id=99581
dōTERRA多特瑞】肌肉萎縮症(Muscle Atrophy) @ 菁菁保健會所：doTERRA多特瑞 :: 痞客邦 PIXNETdōTERRA多特瑞】肌肉萎縮症(Muscle Atrophy) @ 菁菁保健會所：doTERRA多特瑞 :: 痞客邦 PIXNET
薰衣草精油、馬鬱蘭精油、檸檬草精油、岩蘭草精油、芳香調理複方精油使用方法：視需要每日數次數滴塗抹按摩於脊椎兩側。
http://jingjing9278.pixnet.net/blog/post/153490259
FAQ | LAX Body FitnessFAQ | LAX Body Fitness
In 1902, a French researcher invented the 1st EMS machine which was successfully used to treat muscle atrophy and paralysis. Years after in 1976, two Russian scientists Kotz & Chwilon, proved the outstanding results of muscular stimulation on humans. Their experiments showed a 30-40% increase of muscular strength. This study proved that minimal physiological and mental efforts need to be utilized to see results in only short period of time. At this time, EMS was mainly used for therapy, rehabilitation, sport athletes, and muscle imbalancement. ...
https://laxbodyfitness.com/faq
Muscle hypertrophy induced by myostatin inhibition : a new therapeutic approach of muscle atrophy | DIAL.pr - BOREALMuscle hypertrophy induced by myostatin inhibition : a new therapeutic approach of muscle atrophy | DIAL.pr - BOREAL
eng] Increasing size and strength of skeletal muscle represents a promising therapeutic strategy for muscular disorders. One possible new tool is Myostatin (Mstn) because it plays a crucial role in regulating skeletal muscle mass. The first goal of our work was to determine whether Mstn inhibition could prevent muscle atrophy in catabolic states. As glucocorticoids play a major role in most muscle atrophy models, we assessed whether muscle atrophy caused by glucocorticoids in excess could be prevented by Mstn inhibition. This hypothesis was suggested by the fact that glucocorticoids increase muscle Mstn expression and that Mstn muscle overexpression is sufficient to cause muscle atrophy. Our work showed that deletion of Mstn gene protects skeletal muscle from glucocorticoid-induced atrophy, partially through inhibition of proteolysis. The identification of Mstn binding proteins able to inhibit Mstn activity has led to potential new approaches for postdevelopmental muscle mass enhancement. These ...
https://dial.uclouvain.be/pr/boreal/object/boreal:24943
Skeletal muscle atrophy is thought to result from hyperactivation of intracellular | Role of NK1 and NK2 receptors in mouse...Skeletal muscle atrophy is thought to result from hyperactivation of intracellular | Role of NK1 and NK2 receptors in mouse...
Skeletal muscle atrophy is thought to result from hyperactivation of intracellular protein degradation pathways including autophagy and the ubiquitin-proteasome system. actin (HSA) MLN2238 promoter (KO mice) and subjected them to denervation. The plantaris muscles a fast-twitch glycolytic skeletal muscle from both KO and control (KO mice showed resistance to denervation at 7 d after denervation (Fig.?1B-D; Fig. S2A). However the soleus muscles from KO mice and control mice exhibited comparable muscle mass and myofiber size at 14 d after denervation. Notably dead myofibers were frequently observed in the KO soleus muscles at 14 d (Fig.?1C). The enhanced cell death at 14 d most likely contributes to the shrinking of the soleus muscle of KO mice. The phenotypes of soleus muscles of KO mice at 14 d after denervation are coincident with the previous study.4 However the phenotypes at a period earlier than 14 d after denervation were not investigated in that study. Thus our finding seemed to reflect ...
http://stopvivisection.info/skeletal-muscle-atrophy-is-thought-to-result-from-hyperactivation-of-intracellular/
Sphingosine-1-phosphate receptor inhibition prevents denervation-induced dendritic atrophy | Acta Neuropathologica...Sphingosine-1-phosphate receptor inhibition prevents denervation-induced dendritic atrophy | Acta Neuropathologica...
Based on reports that S1P-receptor signaling is involved in neuronal plasticity (e.g., [34, 40, 41]), regulation of neurite remodeling (e.g., [40, 42]), and neuroprotection (e.g., [33, 43, 44]) and also because of the relevance of FTY720 in the treatment of MS, we wondered whether FTY720 could have an influence on denervation-induced dendritic changes. Indeed, FTY720 prevented the denervation-induced reduction in TDL. Furthermore, dynamic imaging revealed that FTY720 stabilizes denervated dendrites and thus prevents the denervation-induced change in the balance of dendritic retraction and elongation. This neuro-stabilization seems to be a direct effect of FTY720 on neural tissue, since the peripheral immune system, which is regarded as the main target of FTY720, is missing in organotypic slice culture preparations. To control for off-target effects of FTY720 (and its agonist-antagonist properties; [16-18]), we repeated these experiments with the S1PR1/3-inhibitor VPC23019 and obtained very ...
https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-016-0303-x
Serval - Regulation of the akt signalling in human skeletal muscle atrophyServal - Regulation of the akt signalling in human skeletal muscle atrophy
Abstract : The term muscle disuse is often used to refer collectively to reductions in neuromuscular activity as observed with sedentary lifestyles, reduced weight bearing, cancer, chronic obstructive pulmonary disease, chronic heart failure, spinal cord injury, sarcopenia or exposure to microgravity (spaceflight). Muscle disuse atrophy, caused by accelerated proteolysis, is predominantly due to the activation of the ATP-dependent ubiquitin (Ub) proteasome pathway. The current advances in understanding the molecular factors contributing to the Ub-dependent proteolysis process have been made mostly in rodent models of human disease and denervation with few investigations performed directly in humans. Recently, in mice, the genes Atrogin-1 and MuRF1 have been designated as primary candidates in the control of muscle atrophy. Additionally, the decreased activity of the Akt/GSK-3ß and Akt/mTOR pathways has been associated with a reduction in protein synthesis and contributing to skeletal
https://serval.unil.ch/fr/notice/serval:BIB_133C43502241
Effect of Molecular Hydrogen Saturated Alkaline Electrolyzed Water on Disuse Muscle Atrophy in Gastrocnemius Muscle
Japans largest platform for academic e-journals: J-STAGE is a full text database for reviewed academic papers published by Japanese societies
https://www.jstage.jst.go.jp/article/jpa2/30/5/30_5_195/_article
KAKEN - Research Projects | Development ofmedical countermeasures for disuse muscle atrophy and the protective effects of...KAKEN - Research Projects | Development ofmedical countermeasures for disuse muscle atrophy and the protective effects of...
Principal Investigator：FUJINO Hidemi, Project Period (FY)：2010 - 2012, Research Category：Grant-in-Aid for Scientific Research (B), Section：一般, Research Field：Rehabilitation science/Welfare engineering
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-22300189/
Muscle atrophy - Causes, Symptoms, Treatment, DefinitionMuscle atrophy - Causes, Symptoms, Treatment, Definition
What is muscle atrophy - definition, causes, symptoms, treatment.The symptoms of disuse muscle atrophy can be easily recognizable
http://symptomstreatment.org/muscle-atrophy-causes/
Video: MTF Research Grant Studies Massage for Muscle Atrophy - Massage Therapy FoundationVideo: MTF Research Grant Studies Massage for Muscle Atrophy - Massage Therapy Foundation
The Massage Therapy Foundation(MTF) has awarded one $30,000 2019 Research Support Grant to the University of Kentucky Research Foundation, Lexington, Ky., for their study, Massage as an Intervention for Muscle Atrophy.. This project examines whether massage therapy is effective in decreasing muscle atrophy and helping subjects recover from muscle disuse. Previous studies in animals have demonstrated that cyclic compressive loading (CCL), a practice that mimics massage, will enhance regrowth after and reduce the effects of atrophy during disuse. Preliminary data show the same trend in a human model of muscle atrophy. The results of this study have many applications of interest as massage can be applied in situations where resistance exercise is not possible.. Click here to read more about this and other currently ongoing MTF Research Projects. ...
https://massagetherapyfoundation.org/video-mtf-research-grant-studies-massage-for-muscle-atrophy/
A horizontal pipe has a cross sectional area of 40.0 cm^2 at the widerA horizontal pipe has a cross sectional area of 40.0 cm^2 at the wider
A horizontal pipe has a cross sectional area of 40.0 cm^2 at the wider portions and 10.0 cm^2 at the constriction. Water is flowing in the pipe, and the discharge from the pipe is 6.00*10^-3 m^3/s(6.00 L/s). Find (a) the flow speeds at the wide and the narrow portions; (b) the pressure difference between those portions; (c) the difference in height between the mercury columns and the U-shaped tube. ...
https://www.jiskha.com/display.cgi?id=1194997410
Clenbuterol Induces Cell Cycle Arrest in C2C12 Myoblasts by Delaying p27 Degradation through β-arrestin 2 SignalingClenbuterol Induces Cell Cycle Arrest in C2C12 Myoblasts by Delaying p27 Degradation through β-arrestin 2 Signaling
1. Tang H, Inoki K, Lee M, Wright E, Khuong A, Khuong A. et al. mTORC1 Promotes Denervation-Induced Muscle Atrophy Through a Mechanism Involving the Activation of FoxO and E3 Ubiquitin Ligases. Sci Signal. 2014;7:ra18 2. Sartori R, Schirwis E, Blaauw B, Bortolanza S, Zhao J, Enzo E. et al. BMP signaling controls muscle mass. Nature genetics. 2013;45:1309-18 3. Sartorelli V, Fulco M. Molecular and cellular determinants of skeletal muscle atrophy and hypertrophy. Sciences STKE: signal transduction knowledge environment. 2004;2004:re11 4. Kim HK, Lee YS, Sivaprasad U, Malhotra A, Dutta A. Muscle-specific microRNA miR-206 promotes muscle differentiation. J Cell Biol. 2006;174:677-87 5. Lynch GS, Ryall JG. Role of beta-adrenoceptor signaling in skeletal muscle: implications for muscle wasting and disease. Physiol Rev. 2008;88:729-67 6. Claeys MC, Mulvaney DR, McCarthy FD, Gore MT, Marple DN, Sartin JL. Skeletal muscle protein synthesis and growth hormone secretion in young lambs treated with ...
http://www.ijbs.com/v13p1341.htm
Correlation between sectional area of the spleen by ultrasonic tomography and actual volume of the removed spleen | Meta
The sectional area of the splenotomogram scanned parallel to the ribs provides useful information for differential diagnosis and determination of prognosis in liver diseases. To establish a relationship between sectional area and actual spleen volume, 10 spleens obtained at splenectomy or autopsy were studied. A good linear correlation (r = 0.956) was present between the sectional area (S) and the actual spleen volume (V). The spleen volume could be calculated as V = 7.5S - 77.5. Therefore the value of the sectional area obtained from one ultrasonic splenotomogram has practical application as a parameter reflecting the spleen volume in vivo. ...
https://www.meta.org/papers/correlation-between-sectional-area-of-the-spleen/108307
Age- and stroke-related skeletal muscle changes a review for the geriatric clinician<...
TY - JOUR. T1 - Age- and stroke-related skeletal muscle changes a review for the geriatric clinician. AU - Sions, Jaclyn Megan. AU - Tyrell, Christine M.. AU - Knarr, Brian A.. AU - Jancosko, Angela. AU - Binder-Macleod, Stuart A.. PY - 2012/7/1. Y1 - 2012/7/1. N2 - Independently, aging and stroke each have a significant negative impact on skeletal muscle, but the potential cumulative effects of aging and stroke have not been explored. Optimal interventions for individuals post-stroke may include those that specifically target skeletal muscle. Addressing changes in muscles may minimize activity limitations and enhance participation post stroke. This article reviews the impact of aging and stroke on muscle morphology and composition, including fiber atrophy, reductions in muscle cross-sectional area, changes in muscle fiber distributions, and increases in intramuscular fat. Relationships between changes in muscle structure, muscle function, and physical mobility are reviewed. Clinical ...
https://nebraska.pure.elsevier.com/en/publications/age-and-stroke-related-skeletal-muscle-changes-a-review-for-the-g
COMPOSITION FOR PROMOTING LOCAL MUSCLE GROWTH OR SLOWING DOWN OR PREVENTING LOCAL MUSCLE ATROPHY AND USE THEREOF - VICTORIA...COMPOSITION FOR PROMOTING LOCAL MUSCLE GROWTH OR SLOWING DOWN OR PREVENTING LOCAL MUSCLE ATROPHY AND USE THEREOF - VICTORIA...
Disclosed is a composition for promoting local muscle growth or slowing down or preventing local muscle atrophy, which composition contains a polypeptide in the C2 region of the enterotoxin Staphylococcus aureus and a myostatin polypeptide. By means of the composition, the defect in the prior art of only systemic muscle growth being possible has been overcome so as to achieve effects of promoting local muscle growth, or slowing down or preventing local muscle atrophy.
http://www.sumobrain.com/patents/wipo/Composition-promoting-local-muscle-growth/WO2019178759A1.html
Understanding Atrophy | Science SignalingUnderstanding Atrophy | Science Signaling
Skeletal muscle atrophy is a major health concern and can be caused by denervation, immobility, or chronic disease states, such as diabetes and cancer. Previous work had found that the denervated muscles were more responsive to the cytokine TWEAK, and the same group now reports that the scaffold and ubiquitin ligase TRAF6 is involved in the activation of various signaling molecules implicated in muscle atrophy, including c-Jun N-terminal kinase (JNK), p38 mitogen-activated protein kinase (p38 MAPK), AMP-activated protein kinase (AMPK), and nuclear factor κB (NF-κB). TRAF6 was abundant in undifferentiated myoblasts (C2C12) and in developing skeletal muscle of young mice, but its abundance decreased in differentiated myotubes (C2C12 cells) and in adult mice. In multiple paradigms that cause muscle atrophy (denervation or mouse models of cancer-induced cachexia or diabetes), TRAF6 transcription, protein abundance, and ubiquitylation increased in the atrophying muscles. Although muscle-specific ...
http://stke.sciencemag.org/content/4/154/ec3
How to Eat and Exercise to Prevent Age-Related Muscle Loss from Sarcopenia - EatingWellHow to Eat and Exercise to Prevent Age-Related Muscle Loss from Sarcopenia - EatingWell
In the short term, any amount of lean muscle or strength loss can cause annoyances ranging from not being able to open a jar of pickles to premature aging (sunken cheeks, more pronounced wrinkling). And if left unchecked, sarcopenia can lead to a host of issues later in life, including disability and increased mortality risk due to frailty. It also ups your odds for metabolic disorders and type 2 diabetes-since muscle tissue helps regulate blood sugar, insulin and other hormones. In fact, its estimated that the annual direct health costs of age-related muscle loss soar upwards of $18.5 billion in the U.S.-making it a -pricier problem than osteoporosis. Sarcopenia tends to be a slow and insidious process-its not something that just happens when you reach old age, says Douglas Paddon-Jones, Ph.D., professor of nutrition and metab-olism at the University of Texas Medical Branch at Galveston. The parallel we often draw is with osteoporosis. Its subtle at first and becomes far more ...
http://www.eatingwell.com/article/275991/how-to-eat-and-exercise-to-prevent-age-related-muscle-loss-from-sarcopenia/?page=7
OpenEmory | Search ResultsOpenEmory | Search Results
Pendrin is a Cl-/HCO3- exchanger expressed in the apical regions of renal intercalated cells. Following pendrin gene ablation, blood pressure falls, in part, from reduced renal NaCl absorption. We asked if pendrin is expressed in vascular tissue and if the lower blood pressure observed in pendrin null mice is accompanied by reduced vascular reactivity. Thus, the contractile responses to KCl and phenylephrine (PE) were examined in isometrically mounted thoracic aortas from wild-type and pendrin null mice. Although pendrin expression was not detected in the aorta, pendrin gene ablation changed contractile protein abundance and increased the maximal contractile response to PE when normalized to cross sectional area (CSA). However, the contractile sensitivity to this agent was unchanged. The increase in contractile force/cross sectional area observed in pendrin null mice was due to reduced cross sectional area of the aorta and not from increased contractile force per vessel. The pendrin-dependent ...
https://open.library.emory.edu/publications/search/?department=Medicine%3A+Pulmonary&keywords=multidisciplinari&keywords=smoothmuscl&keywords=muscl&keywords=investig
Disuse atrophy delays and reduces amino acid induced activation of key translational signaling proteins in humans
Disuse atrophy delays and reduces amino acid induced activation of key translational signaling proteins in humans Conference Paper ...
https://experts.mcmaster.ca/display/publication1119984
Plus itPlus it
Objective: To establish a bedside test with ultrasonography for evaluation of foot muscle atrophy in diabetic patients.. Research Design and Methods: Thickness and cross sectional area of the extensor digitorum brevis muscle (EDB) and of the muscles of the first interstitium (MIL) were determined in 26 diabetic patients and in 26 matched control subjects using ultrasonography. To estimate the validity findings were related to the total volume of all foot muscles determined at magnetic resonance imaging (MRI-FMvol). Furthermore, the relations of ultrasonographic estimates to nerve conduction, sensory perception tresholds and clinical condition were established.. Results: In diabetic patients the ultrasonographic thickness of EDB (U-EDBt) was 6.4 ± 2.1 mm (mean ± SD) vs. 9.0 ± 1.0 mm in controls (p,0.001), thickness of MIL (U-MILt) was 29.6 ± 8.3 mm vs. 40.2 ± 3.6 mm in controls (p,0.001) and the cross sectional area of EDB (U-EDBCSA) was 116 ± 65 mm2 vs. 214 ± 38 mm2 in controls (p,0.001). ...
http://care.diabetesjournals.org/content/early/2007/08/23/dc07-0108
Sarcopenia - Muscle Atrophy that Affects Everyone - Fitness. Down to a Science.Sarcopenia - Muscle Atrophy that Affects Everyone - Fitness. Down to a Science.
Sarcopenia - Muscle Atrophy that Affects Everyone You are between the ages of 40 and 75 years old. Youve noticed recently, or perhaps for a while now, that you dont have the stamina, strength or endurance that you once had. Taking the stairs leaves you more winded than you remember; carrying groceries; shoveling snow; mowing […]
https://oneupfitness.ca/sarcopenia-muscle-atrophy-that-affects-everyone/
Marathon, muscle atrophy and sarcopenia | Shananarocks Again!Marathon, muscle atrophy and sarcopenia | Shananarocks Again!
I applaud Straits Times article (24 May 208, page 28) entitled Dont Outlive your Muscle, How to keep muscle healthy. It provided good information about muscle atrophy by getting a 60-year old marathoner who happens to be also a chief cardiologist to espouse the importance of having muscle to lift your frail skeletal frame at…
https://shananarocks.wordpress.com/2008/05/24/marathon-muscle-a/
ICD-10-CM Code M62.521 - Muscle wasting and atrophy, not elsewhere classified, right upper armICD-10-CM Code M62.521 - Muscle wasting and atrophy, not elsewhere classified, right upper arm
Muscle atrophy is defined as a decrease in the mass of the muscle; it can be a partial or complete wasting away of muscle, and is most commonly experienced when persons suffer temporary disabling circumstances such as being restricted in movement and/or confined to bed as when hospitalized. When a muscle atrophies, this leads to muscle weakness, since the ability to exert force is related to mass. Modern medicines understanding of the quick onset of muscle atrophy is a major factor behind the practice of getting hospitalized patients out of bed and moving about as active as possible as soon as is feasible, despite sutures, wounds, broken bones and pain. ...
https://icd.codes/icd10cm/M62521
cement plant for rotary kilncement plant for rotary kiln
2016-2-1 Sweep Factor is defined as:-(3) SF = A gas 0.25 e m 0 e x × F gas A cell Where SF denotes the Sweep Factor (min −1), A gas is the total cross sectional area of bubbles per unit volume (m 2 gas/m 3 gas), F gas is the gas volumetric flow rate (m 3 min −1) and A cell is the cross sectional area of flotation cell ...
https://www.jenny-fabrics.ch/limestone/1625601094-cement-plant-for-rotary-kiln/3573/
REAQER Stroke Resting Hand Splint Night Immobilizer Muscle Atrophy Rehabilitation In The Hands, Wrists And Fingers (Right)
Buy REAQER Stroke Resting Hand Splint Night Immobilizer Muscle Atrophy Rehabilitation In The Hands, Wrists And Fingers (Right) securely online today at a great price. REAQER Str...
https://www.twincitysurplus.com/reaqer-stroke-resting-hand-splint-night-immobilizer-muscle-atrophy/
Muscle atrophy and Paralysis symptoms - Symptom Checker - check medical symptoms at RightDiagnosisMuscle atrophy and Paralysis symptoms - Symptom Checker - check medical symptoms at RightDiagnosis
List of 65 causes of Muscle atrophy and Paralysis symptoms, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
http://symptoms.rightdiagnosis.com/cosymptoms/muscle-atrophy/paralysis-symptoms.htm
DashmoolBala Oil is the group of ten herbs, Beneficial for muscle atrophyDashmoolBala Oil is the group of ten herbs, Beneficial for muscle atrophy
DashmoolBala Oil : Beneficial for massage in muscle atrophy, facial paralysis, tingling sensation, numbness, loss of movement and strength in limbs.
http://chakrapaniayurveda.com/product/dashmoolbala-oil/
Muscle atrophy and Neurological disorder - Symptom Checker - check medical symptoms at RightDiagnosisMuscle atrophy and Neurological disorder - Symptom Checker - check medical symptoms at RightDiagnosis
List of 297 causes for Muscle atrophy and Neurological disorder, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
http://symptoms.rightdiagnosis.com/cosymptoms/muscle-atrophy/neurological-disorder.htm
JCI Insight - TAK1 regulates skeletal muscle mass and mitochondrial functionJCI Insight - TAK1 regulates skeletal muscle mass and mitochondrial function
Skeletal muscle mass is regulated by a complex array of signaling pathways. TGF-β-activated kinase 1 (TAK1) is an important signaling protein, which regulates context-dependent activation of multiple intracellular pathways. However, the role of TAK1 in the regulation of skeletal muscle mass remains unknown. Here, we report that inducible inactivation of TAK1 causes severe muscle wasting, leading to kyphosis, in both young and adult mice.. Inactivation of TAK1 inhibits protein synthesis and induces proteolysis, potentially through upregulating the activity of the ubiquitin-proteasome system and autophagy. Phosphorylation and enzymatic activity of AMPK are increased, whereas levels of phosphorylated mTOR and p38 MAPK are diminished upon inducible inactivation of TAK1 in skeletal muscle. In addition, targeted inactivation of TAK1 leads to the accumulation of dysfunctional mitochondria and oxidative stress in skeletal muscle of adult mice. Inhibition of TAK1 does not attenuate denervation-induced ...
https://insight.jci.org/articles/view/98441/figure/3
Common Painkiller may Prevent Age-Related Muscle Loss: StudyCommon Painkiller may Prevent Age-Related Muscle Loss: Study
Marshall University researchers in the US say that age-associated muscle loss and other conditions may be prevented with the use of the common pain reliever acetaminophen.
http://www.medindia.net/news/Common-Painkiller-may-Prevent-Age-Related-Muscle-Loss-Study-58621-1.htm
Plus itPlus it
It has been recently appreciated that statins have profound anti-inflammatory effects that might explain their beneficial role in reducing respiratory morbidity and mortality in COPD (table 1⇑) [66-101, 114-121]. Studies have shown that statins reduce neutrophil influx in the lung which might have a strong effect on attenuating the downstream inflammatory events, such as macrophage influx, lymphocyte activation and inhibition of cytokine release, in particular IL-8 that appears central to the neutrophil inflammation of the lung [67-77, 80-88]. The inhibition of IL-6, IL-8 and GM-CSF expression by statins has been shown in cell cultures of human BEC [65, 70]. Statins have also been shown to modify airway inflammation in animal models and matrix remodelling, notably inhibiting emphysema formation [73-75]. Statins also have effects on IL-6 levels in the systemic circulation and the effects of anti-oxidants on muscle atrophy [70, 73-77, 80, 87, 88]. Statins also inhibit apoptosis, which has been ...
https://err.ersjournals.com/content/18/114/222
Can Age-Related Muscle Loss Be Prevented?Can Age-Related Muscle Loss Be Prevented?
One of the most significant changes that come with aging is the loss of muscle mass, or sarcopenia in scientific terms. While much attention has been paid to diminishing bone density, a.k.a. osteoporo...
http://www.huffingtonpost.ca/timi-gustafson/aging-muscle-loss_b_13554694.html
Sarcopenia Pipeline Insight, 2020 By DelveInsight - India News Magazine
Albany, US) DelveInsight has launched a new report on Sarcopenia Pipeline. Sarcopenia Pipeline Insight, 2020 report by DelveInsight outlays comprehensive insights of present clinical development scenario and growth prospects across the Sarcopenia market. A detailed picture of the Sarcopenia pipeline landscape is provided, which includes the disease overview and Sarcopenia treatment guidelines. The assessment part of the report embraces in-depth Sarcopenia commercial assessment and clinical assessment of the Sarcopenia pipeline products from the pre-clinical developmental phase to the marketed phase. In the report, a detailed description of the drug is proffered including mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Sarcopenia collaborations, licensing, mergers and acquisition, funding, designations, and other product-related details.. Sarcopenia is a condition which is characterized by loss of muscle ...
http://www.indianewsmagazine.in/story/72418/sarcopenia-pipeline-insight-2020-by-delveinsight.html
How to Spot Signs of Muscle Loss in Dogs: 13 Steps (with Pictures)How to Spot Signs of Muscle Loss in Dogs: 13 Steps (with Pictures)
How to Spot Signs of Muscle Loss in Dogs. Muscle loss is just what it sounds like, the wasting away of muscle in your dogs body. Mostly, it shows up in ways youd think it would, such as your dog thinning out or showing signs of weakness....
https://www.wikihow.com/Spot-Signs-of-Muscle-Loss-in-Dogs
Gusarova, GalinaGusarova, Galina
levels cause skeletal muscle atrophy via AMP-activated kinase (AMPK), FoxO3a protein, and muscle-specific ring finger protein 1 (MuRF1). Journal of Biological Chemistry. 2015 ...
http://vivo.med.cornell.edu/display/person589028
Genetic and Protein Expressions with Disuse Atrophy - Experts@MinnesotaGenetic and Protein Expressions with Disuse Atrophy - [email protected]
Explore the research topics touched on by this project. These labels are generated based on the underlying awards/grants. Together they form a unique fingerprint ...
https://experts.umn.edu/en/projects/genetic-and-protein-expressions-with-disuse-atrophy-2
How to Fight Sarcopenia (Muscle Loss Due to Aging)How to Fight Sarcopenia (Muscle Loss Due to Aging)
Sarcopenia, or muscle loss, is a common condition that affects older adults. This article explains what causes sarcopenia and how to fight it.
https://www.healthline.com/nutrition/sarcopenia
Alleviating Atrophy - The IntroductionAlleviating Atrophy - The Introduction
Very little attention will be paid to muscle atrophy during the early critical care phase of a serious stroke. Saving your life and alleviating your suffering are appropriate priorities. Nevertheless, some attention early on can pay big dividends toward a full recovery. Muscle atrophy will likely become one of your last and most intractable impediments…
https://overcomingstroke.wordpress.com/2014/01/08/alleviating-atrophy-the-introduction/
Victims of medical experiments testify during Medical CaseVictims of medical experiments testify during Medical Case
Here the lateral soleus muscle which gives the calf its graceful curve. Follow the leg, heres the medial, heres the lateral. The lateral gives, the lateral...the graceful, normal curve. Now, the neurological examination. Will you please try to do this. The patient is unable to totally flex the foot, to elevate the foot upwards. Try to do it on the other side, if you will. Just show that you understand please. Like this. Up. Now, try to do it here. Okay. Dorsiflexion is completely gone. I offer this X ray as prosecution exhibit number 215. The, uh, most remarkable finding in, findings in Miss, Miss [Jadwiga] Dzidos case is, at first, marked atrophy of the right leg, including thigh, leg, and foot. Would you, please stand up, and will you gradually turn around? Very slowly turn around. You can compare here the two legs, and you notice the marked atrophy. You see the femur of this bone, of this leg, as compared to the other. ...without tendinous insertion. You can see this tendon here, strong ...
https://www.ushmm.org/wlc/en/media_fi.php?ModuleId=10005140&MediaId=215
Help Stop Muscle Mass Loss As We Age | Dr. Jeffrey TuckerHelp Stop Muscle Mass Loss As We Age | Dr. Jeffrey Tucker
As we age there is a decline in muscle mass, muscle strength and endurance. Associated with this is decline in aerobic capacity, and this causes people to
https://drjeffreytucker.com/2012/03/2481/
Parascapular muscle atrophy as a delayed effect of radiation treatment | Practical NeurologyParascapular muscle atrophy as a delayed effect of radiation treatment | Practical Neurology
A 73-year-old man presented to the neuromuscular clinic when his wife noted scalloping of his back muscles. He had neither noticed this muscle loss nor felt any weakness or sensory symptoms. He was treated for testicular cancer 35 years ago with abdominal surgery and had undergone mediastinal and para-aortic irradiation to treat the lymphatic … ...
http://pn.bmj.com/content/17/2/127
Disuse Penile Atrophy - Use It or Lose It Aint No Lie GentlemenDisuse Penile Atrophy - Use It or Lose It Aint No Lie Gentlemen
Disuse penile atrophy is a legit medical condition. Think about it, if a broken arm placed in a cast atrophies due to disuse, why wouldnt..
https://morningsteel.com/disuse-penile-atrophy/
Muscle Atrophy - Should You Worry of Losing Muscle Mass During Fat Loss? - BellyProofMuscle Atrophy - Should You Worry of Losing Muscle Mass During Fat Loss? - BellyProof
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https://bellyproof.com/muscle-atrophy/
10 pro tips to increased gains. - Soalpha
10 Pro Tips to Increased Gains. Increase your workout productivity. 1. Get stronger on basics. If your goal is to build muscle in record time, then you need to get stronger. Physiologically speaking, as a muscle gets stronger (produces more force), the cross sectional area grows larger (i.e., it hypertrophies). Your wo
https://www.soalpha.com/pages/workout-tips
Edexcel A2 Biology Unit 5 (6BIO5) - 22/06/2011- OFFICIAL THREAD ! - Page 135 - The Student RoomEdexcel A2 Biology Unit 5 (6BIO5) - 22/06/2011- OFFICIAL THREAD ! - Page 135 - The Student Room
not too sure about RNA Interferon. However FOXO is a transcription factor that, if i read correctly, activates the synthesis of the gene that promotes muscle atrophy so breakdown of muscle, what theyre trying to do is inhibit the production of FOXO as to prevent muscle atrophy particularly in times of sedentary activity i.e. on a spaceflight to Mars ...
https://www.thestudentroom.co.uk/showthread.php?t=1582083&page=135
Sarcopenia: As We Age Muscle Loss Occurs Baraboo WI - Sarcopenia prevention, Baraboo WI fitness tips, Baraboo WI health care,...
With aging and inactivity, the most atrophy is seen in the fast twitch (FT) fibers which are recruited during high-intensity, anaerobic movements. Although sarcopenia is mostly seen in physically inactive individuals, it is also evident in individuals who remain physically active throughout their lives.
http://local.momsnetwork.com/Sarcopenia_As_We_Age_Muscle_Loss_Occurs_Baraboo_WI-r1361368-Baraboo_WI.html
Sarcopenia: As We Age Muscle Loss Occurs Bayville NJ - Sarcopenia prevention, Bayville NJ fitness tips, Bayville NJ health...
With aging and inactivity, the most atrophy is seen in the fast twitch (FT) fibers which are recruited during high-intensity, anaerobic movements. Although sarcopenia is mostly seen in physically inactive individuals, it is also evident in individuals who remain physically active throughout their lives.
http://local.momsnetwork.com/Sarcopenia_As_We_Age_Muscle_Loss_Occurs_Bayville_NJ-r1361368-Bayville_NJ.html
HIE Multimedia - Muscle atrophyHIE Multimedia - Muscle atrophy
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited ...
http://slu.adam.com/content.aspx?productid=117&pid=1&gid=003188
Muscle Atrophy | GreenMedInfo | Category | Natural MedicineMuscle Atrophy | GreenMedInfo | Category | Natural Medicine
This website is for information purposes only. By providing the information contained herein we are not diagnosing, treating, curing, mitigating, or preventing any type of disease or medical condition. Before beginning any type of natural, integrative or conventional treatment regimen, it is advisable to seek the advice of a licensed healthcare professional.. © Copyright 2008-2020 GreenMedInfo.com, Journal Articles copyright of original owners, MeSH copyright NLM.. ...
http://video.greenmedinfo.com/category/keywords/Muscle%20Atrophy
මාංශ පේශි Atrophy විශේෂඥ - Shijiazhuang Yiling රෝහලේමාංශ පේශි Atrophy විශේෂඥ - Shijiazhuang Yiling රෝහලේ
සම්ප්රදායික චීන වෛද්ය රාජ්ය පරිපාලන ප්රධාන විශේෂ රෝහලක් ලෙස, Muscle Atrophy දෙපාර්තමේන්තුව දිගින් දිගටම ඊ ජාතික Muscle සංකෝචනය වේ
http://www.yilinghospital.com/si/department-expert/muscle-atrophy-department-expert/
Senile Vulvar Atrophy (Vulva Senile Atrophy): Symptoms, Diagnosis and Treatment - SymptomaSenile Vulvar Atrophy (Vulva Senile Atrophy): Symptoms, Diagnosis and Treatment - Symptoma
Senile Vulvar Atrophy (Vulva Senile Atrophy): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.
https://www.symptoma.com/en/info/senile-vulvar-atrophy
Progressive muscular atrophyProgressive muscular atrophy
Aran-Duchenne muscular atrophy, and Duchenne-Aran muscular atrophy. The name "spinal muscular atrophy" is ambiguous as it ... Progressive muscular atrophy (PMA), also called Duchenne-Aran disease and Duchenne-Aran muscular atrophy, is a disorder ... The condition has been called progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), Aran-Duchenne disease, ... refers to any of various spinal muscular atrophies, including the autosomal recessive spinal muscular atrophy caused by a ...
https://en.wikipedia.org/wiki/Progressive_muscular_atrophy
Spinal muscular atrophySpinal muscular atrophy
"Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Retrieved 27 May 2019. "Spinal muscular atrophy". ... "Spinal muscular atrophy: MedlinePlus Genetics". medlineplus.gov. Retrieved 24 October 2020. "Spinal Muscular Atrophy (SMA) , ... "Spinal muscular atrophy". Genetics Home Reference. Retrieved 27 May 2019. "Spinal Muscular Atrophy - Conditions , Children's ... "Spinal Muscular Atrophy". uptodate.com. Retrieved 1 December 2017. Bach JR, Niranjan V, Weaver B (April 2000). "Spinal muscular ...
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy
Congenital distal spinal muscular atrophyCongenital distal spinal muscular atrophy
June 2012). "Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss ... Congenital distal spinal muscular atrophy is a hereditary condition characterized by muscle wasting (atrophy), particularly of ... February 2004). "Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI ... Spinal muscular atrophies Oates EC, Reddel S, Rodriguez ML, et al. ( ...
https://en.wikipedia.org/wiki/Congenital_distal_spinal_muscular_atrophy
Jokela type spinal muscular atrophyJokela type spinal muscular atrophy
... (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is an ultra-rare ... "Spinal muscular atrophy, jokela type (Concept Id: C3554398) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 5 May 2021. " ... Medicine portal Chromosome 22 Finnish heritage disease Spinal muscular atrophies "Uusi hitaasti etenevä motoneuronitauti ... The disease is slowly progressive with adult onset and results in weakness and mild muscle atrophy. The disease does not affect ...
https://en.wikipedia.org/wiki/Jokela_type_spinal_muscular_atrophy
Spinal and bulbar muscular atrophySpinal and bulbar muscular atrophy
"Clinical Features of Spinal and Bulbar Muscular Atrophy". "OMIM Entry - # 313200 - SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED ... Decreased or absent deep tendon reflexes Muscular Cramps: muscle spasms Muscular atrophy: loss of muscle bulk that occurs when ... Spinal and bulbar muscular atrophy may share mechanistic features with other disorders caused by polyglutamine expansion, such ... "Spinal and bulbar muscular atrophy". Genetics Home Reference. 2016-03-21. Retrieved 2016-03-23. La Spada, Albert (1993-01-01). ...
https://en.wikipedia.org/wiki/Spinal_and_bulbar_muscular_atrophy
Distal spinal muscular atrophy type 2Distal spinal muscular atrophy type 2
... (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very ... Spinal muscular atrophies Distal hereditary motor neuropathies Christodoulou, K; Zamba, E; Tsingis, M; Mubaidin, A; Horani, K; ... v t e v t e (Articles with short description, Short description is different from Wikidata, Muscular disorders, Genetic ...
https://en.wikipedia.org/wiki/Distal_spinal_muscular_atrophy_type_2
Distal spinal muscular atrophy type 1Distal spinal muscular atrophy type 1
... (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1 ... Distal hereditary motor neuropathies Spinal muscular atrophies Spinal muscular atrophy Messina, M. F.; Messina, S.; Gaeta, M.; ... There is no published practice standard for the care in DSMA1, even though the Spinal Muscular Atrophy Standard of Care ... DSMA1 was identified and classified as a sub-group of spinal muscular atrophies (SMA) in 1974. Currently, various ...
https://en.wikipedia.org/wiki/Distal_spinal_muscular_atrophy_type_1
Spinal muscular atrophiesSpinal muscular atrophies
... spinal muscular atrophies can be divided into:[citation needed] Proximal spinal muscular atrophies, i.e., conditions that ... spinal muscular atrophies are traditionally divided into:[citation needed] Autosomal recessive proximal spinal muscular atrophy ... In all forms of SMA (with an exception of X-linked spinal muscular atrophy type 1), only motor neurons, located at the anterior ... Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders ...
https://en.wikipedia.org/wiki/Spinal_muscular_atrophies
X-linked spinal muscular atrophy type 2X-linked spinal muscular atrophy type 2
Spinal muscular atrophies Arthrogryposis Ramser, J.; Ahearn, M. E.; Lenski, C.; Yariz, K. O.; Hellebrand, H.; Von Rhein, M.; ... X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1 ... Symptoms resemble the more severe forms of the more common spinal muscular atrophy (SMA); however, SMAX2 is caused by a ... In infancy it is important to look for the following when considering a X-linked spinal muscular atrophy diagnosis: Congenital ...
https://en.wikipedia.org/wiki/X-linked_spinal_muscular_atrophy_type_2
Spinal muscular atrophy with progressive myoclonic epilepsySpinal muscular atrophy with progressive myoclonic epilepsy
... (SMA-PME), sometimes called Jankovic-Rivera syndrome, is a very ... "Spinal muscular atrophy with progressive myoclonic epilepsy". Genetics Home Reference. Retrieved 2018-09-24. Zhou, J.; Tawk, M ... Jankovic, J.; Rivera, V. M. (1979). "Hereditary myoclonus and progressive distal muscular atrophy". Annals of Neurology. 6 (3 ... National Institutes of Health (December 2013). "Genetics Home Reference: Spinal muscular atrophy with progressive myoclonic ...
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_progressive_myoclonic_epilepsy
Spinal muscular atrophy with lower extremity predominanceSpinal muscular atrophy with lower extremity predominance
... , sometimes called lower extremity-predominant spinal muscular atrophy ... Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower extremity predominance 2A Spinal ... muscular atrophy with lower extremity predominance 2B Spinal muscular atrophies This disambiguation page lists articles ... associated with the title Spinal muscular atrophy with lower extremity predominance. If an internal link led you here, you may ...
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_lower_extremity_predominance
Spinal muscular atrophy with lower extremity predominance 1Spinal muscular atrophy with lower extremity predominance 1
Spinal muscular atrophies Spinal muscular atrophy with lower extremity predominance 2A Spinal muscular atrophy with lower ... Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants ... "Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32". Neurology. 75 (6): 539-546. doi:10.1212/ ... "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology. 78 (16): 1714-20. doi:10.1212/WNL. ...
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_lower_extremity_predominance_1
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndromeMuscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
... , also known as Kurukawa-Takagi-Nakao syndrome is a very ... "Orphanet: Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus syndrome". www.orpha.net. Retrieved 2022-06-03. "OMIM ... It has been described in 10 members from a large 4-generation Japanese family (1986). "Muscular atrophy ataxia retinitis ... "Hereditary muscular atrophy with ataxia, retinitis pigmentosa, and diabetes mellitus: A clinical report of a family". Neurology ...
https://en.wikipedia.org/wiki/Muscular_atrophy-ataxia-retinitis_pigmentosa-diabetes_mellitus_syndrome
Spinal muscular atrophy with lower extremity predominance 2ASpinal muscular atrophy with lower extremity predominance 2A
Spinal muscular atrophies Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower ... Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by ... Systemic atrophies primarily affecting the central nervous system, All stub articles, Genetic disorder stubs). ...
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_lower_extremity_predominance_2A
Spinal muscular atrophy with lower extremity predominance 2BSpinal muscular atrophy with lower extremity predominance 2B
Spinal muscular atrophies Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower ... Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by ... "In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis". Cold Spring Harbor Molecular Case ... Systemic atrophies primarily affecting the central nervous system, All stub articles, Genetic disorder stubs). ...
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_lower_extremity_predominance_2B
Mir-92 microRNA precursor familyMir-92 microRNA precursor family
Melki J (October 1997). "Spinal muscular atrophy". Current Opinion in Neurology. 10 (5): 381-5. doi:10.1097/00019052-199710000- ... and loss of function to the SMN complex has been correlated with the neurodegenerative disease spinal muscular atrophy. Also ...
https://en.wikipedia.org/wiki/Mir-92_microRNA_precursor_family
Madras motor neuron diseaseMadras motor neuron disease
Liewluck, Teerin; Saperstein, David S (November 2015). "Progressive Muscular Atrophy". In Dimachkie, Mazen M.; Barohn, Richard ... According to the same study, there is a variant form known as MMNDV, which is classified by additional optic atrophy. Due to ... For example, an MRI can be used to discover the atrophy of the specific brain regions.[citation needed] MMND can be ...
https://en.wikipedia.org/wiki/Madras_motor_neuron_disease
Signal recognition particleSignal recognition particle
RNA-Processing Dysfunction in Spinal Muscular Atrophy". In Sumner CJ, Paushkin S, KO CP (eds.). Spinal Muscular Atrophy. ... the presence of anti-SRP antibodies are associated with more prominent muscle weakness and atrophy. Signal recognition particle ...
https://en.wikipedia.org/wiki/Signal_recognition_particle
SMN1SMN1
Liu Q, Fischer U, Wang F, Dreyfuss G (September 1997). "The spinal muscular atrophy disease gene product, SMN, and its ... Mutations in SMN1 are associated with spinal muscular atrophy. Mutations in SMN2 alone do not lead to disease, although ... "Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene". Annals of Neurology ... "Spinal muscular atrophy of childhood at the edge of the centuries". Functional Neurology. 16 (4 Suppl): 247-53. PMID 11996521. ...
https://en.wikipedia.org/wiki/SMN1
Monomelic amyotrophyMonomelic amyotrophy
Hirayama, K.; Tokumaru, Y. (23 May 2000). "Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper ... The disease (disorder) was first described by Keizo Hirayama in 1959 as "juvenile muscular atrophy of unilateral upper ... 179 cases) Hassan KM, Sahni H (2013). "Nosology of juvenile muscular atrophy of distal upper extremity: from monomelic ... Liewluck, Teerin; Saperstein, David S (November 2015). "Progressive Muscular Atrophy". In Dimachkie, Mazen M.; Barohn, Richard ...
https://en.wikipedia.org/wiki/Monomelic_amyotrophy
Chew Chor MengChew Chor Meng
患肌肉萎缩症 周初明受访： 坐轮椅也要 看女儿长大 [Suffering from muscular atrophy, Chew Chor Meng's Exclusive Interview: "I will watch my daughter ... "Chew has muscular atrophy". Archived from the original on 23 December 2008. Retrieved 13 November 2019. "Chew Chor Meng is OK ... Tan, Dawn Weie (21 December 2008). "'I may need a wheelchair'--But actor Chew Chor Meng refuses to let muscular atrophy get him ... On 19 December 2008, Chew announced during a church event that he was suffering from Kennedy's disease, a muscular dystrophy ...
https://en.wikipedia.org/wiki/Chew_Chor_Meng
AtrophyAtrophy
A diminished muscular trophic condition is designated as atrophy. Atrophy is reduction in size of cell, organ or tissue, after ... Olivopontocerebellar atrophy Optic atrophy Spinomuscular atrophy Hypertrophy List of biological development disorders W. T. ... Examples of atrophying muscle diseases include muscular dystrophy, myotonia congenita, and myotonic dystrophy. Changes in Na+ ... Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy ...
https://en.wikipedia.org/wiki/Atrophy
Motor neuron diseasesMotor neuron diseases
... progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy ( ... Spinal muscular atrophies Hereditary motor and sensory neuropathies Ince PG, Clark B, Holton J, Revesz T, Wharton SB (2008). " ... "Progressive Muscular Atrophy - an overview , ScienceDirect Topics". www.sciencedirect.com. Retrieved 24 June 2022. "Motor ... for instance the diseases belonging to the spinal muscular atrophies group. However, they are not classified as "motor neuron ...
https://en.wikipedia.org/wiki/Motor_neuron_diseases
List of polio survivorsList of polio survivors
Breakwell, Spike (11 March 2006). "Inside story: spinal muscular atrophy". The Times. London. Retrieved 1 June 2007. Fowler, ...
https://en.wikipedia.org/wiki/List_of_polio_survivors
Pablo EcheniquePablo Echenique
He had Spinal muscular atrophy. Echenique was elected a member of the Congress of Deputies in the April 2019 Spanish general ... People with spinal muscular atrophy, Podemos (Spanish political party) MEPs, Politicians with disabilities, Spanish physicists ...
https://en.wikipedia.org/wiki/Pablo_Echenique
X-linked recessive inheritanceX-linked recessive inheritance
Spinal and bulbar muscular atrophy; muscle cramps and progressive weakness Lesch-Nyhan syndrome; neurologic dysfunction, ... and upturned nasal tip Spinal muscular atrophy caused by UBE1 gene mutation; weakness due to loss of the motor neurons of the ... Becker's muscular dystrophy, a milder form of Duchenne, which causes slowly progressive muscle weakness of the legs and pelvis ... Duchenne muscular dystrophy, which is associated with mutations in the dystrophin gene. It is characterized by rapid ...
https://en.wikipedia.org/wiki/X-linked_recessive_inheritance
GynecomastiaGynecomastia
Grunseich, C; Fischbeck, KH (November 2015). "Spinal and Bulbar Muscular Atrophy". Neurologic Clinics. 33 (4): 847-54. doi: ... proportion of male gynecomastia cases may be seen with rare inherited disorders such as spinal and bulbar muscular atrophy and ...
https://en.wikipedia.org/wiki/Gynecomastia
Spike BreakwellSpike Breakwell
... spinal muscular atrophy". The Times. UK. Retrieved 8 October 2008. Bev Creagh (19 November 2021). "Meet Dunstable's wannabe ...
https://en.wikipedia.org/wiki/Spike_Breakwell
NusinersenNusinersen
Spinal muscular atrophy is caused by loss-of-function mutations in the SMN1 gene which codes for survival motor neuron (SMN) ... The drug is used to treat spinal muscular atrophy associated with a mutation in the SMN1 gene. It is administered directly to ... In around 60% of infants affected by type 1 spinal muscular atrophy, it improves motor function. People treated with nusinersen ... Nusinersen, marketed as Spinraza, is a medication used in treating spinal muscular atrophy (SMA), a rare neuromuscular disorder ...
https://en.wikipedia.org/wiki/Nusinersen
Flail limbFlail limb
Progressive muscular atrophy Yeoman, P. M.; Seddon, H. J. (August 1961). "Brachial Plexus Injuries: Treatment of the Flail Arm ... The muscles soon wither away from atrophy, and the arm swings loosely at the side like a "dead weight."[citation needed] Flail ...
https://en.wikipedia.org/wiki/Flail_limb
Split hand syndromeSplit hand syndrome
... such as spinal muscular atrophy, Charcot-Marie-Tooth disease, poliomyelitis and progressive muscular atrophy. A slow onset and ... Voermans NC, Schelhaas HJ, Munneke M, Zwarts MJ (December 2006). "Dissociated small hand muscle atrophy in aging: the 'senile ... April 2008). "Dissociated small hand muscle atrophy in amyotrophic lateral sclerosis: frequency, extent, and specificity". ... the apparent muscle wasting is sarcopenia rather than atrophy). The term split hand syndrome was first coined in 1994 by a ...
https://en.wikipedia.org/wiki/Split_hand_syndrome
Muscle atrophyMuscle atrophy
Media related to Muscle atrophy at Wikimedia Commons Muscular atrophy at the US National Library of Medicine Medical Subject ... such as the various spinal muscular atrophies. Muscle atrophy results from an imbalance between protein synthesis and protein ... Finally, diseases of the muscles such as muscular dystrophy or myopathies can cause atrophy, as well as damage to the nervous ... However, some syndromes of muscular atrophy are classified as disease spectrums or disease entities rather than as clinical ...
https://en.wikipedia.org/wiki/Muscle_atrophy
List of diseases (C)List of diseases (C)
... recessive Charcot-Marie-Tooth peroneal muscular atrophy, X-linked CHARGE syndrome Charles' disease Charlie M syndrome Chavany- ... aplastic anemia Congenital arteriovenous shunt Congenital articular rigidity Congenital benign spinal muscular atrophy dominant ... atrophy Congenital mitral malformation Congenital mitral stenosis Congenital mixovirus Congenital mumps Congenital muscular ... Contractures ectodermal dysplasia cleft lip palate Contractures hyperkeratosis lethal Contractures of feet-muscle atrophy- ...
https://en.wikipedia.org/wiki/List_of_diseases_(C)
Foot bindingFoot binding
Other issues that may have arisen from footbinding included paralysis and muscular atrophy. There are many interpretations to ...
https://en.wikipedia.org/wiki/Foot_binding
Scott E. ParazynskiScott E. Parazynski
... a free-floating exercise he developed to prevent muscular atrophy in microgravity. Space Shuttle Atlantis circled the earth 175 ...
https://en.wikipedia.org/wiki/Scott_E._Parazynski
Sigma-1 receptorSigma-1 receptor
Mutations in sigma-1 receptor have been associated with distal spinal muscular atrophy type 2. The following ligands have high ...
https://en.wikipedia.org/wiki/Sigma-1_receptor
RNA-targeting small molecule drugsRNA-targeting small molecule drugs
Branaplam is currently in phase I/II clinical trial for the treatment of Spinal Muscular Atrophy (SMA). This molecule is from a ... Ataluren is in clinical trials for the treatment of Duchenne Muscular Dystrophy (DMD). It is believed that Ataluren acts by ...
https://en.wikipedia.org/wiki/RNA-targeting_small_molecule_drugs
SMA4SMA4
... may stand for: Spinal muscular atrophy (SMA) type 4 Super Mario Advance 4: Super Mario Bros. 3 SMA Negeri 4 Pontianak ( ...
https://en.wikipedia.org/wiki/SMA4
SprainSprain
Prolonged immobilization can delay the healing of a sprain, as it usually leads to muscle atrophy and weakness. Although ... Woods, Krista; Bishop, Phillip; Jones, Eric (2007-12-01). "Warm-Up and Stretching in the Prevention of Muscular Injury". Sports ...
https://en.wikipedia.org/wiki/Sprain
Gem-associated protein 2Gem-associated protein 2
Friesen WJ, Massenet S, Paushkin S, Wyce A, Dreyfuss G (May 2001). "SMN, the product of the spinal muscular atrophy gene, binds ... Gideon Dreyfuss Spinal muscular atrophy GRCh38: Ensembl release 89: ENSG00000092208 - Ensembl, May 2017 GRCm38: Ensembl release ... Liu Q, Fischer U, Wang F, Dreyfuss G (September 1997). "The spinal muscular atrophy disease gene product, SMN, and its ... the spinal muscular atrophy gene product, and is a component of gems". The Journal of Cell Biology. 147 (6): 1181-1194. doi: ...
https://en.wikipedia.org/wiki/Gem-associated_protein_2
SBMASBMA
... may refer to: Spinal and bulbar muscular atrophy Subic Bay Metropolitan Authority This disambiguation page lists articles ...
https://en.wikipedia.org/wiki/SBMA
Physiological effects in spacePhysiological effects in space
Atrophy of both major myofiber types, with atrophy of Type II > Type I, is somewhat different from the more selective Type I ... Thornton, WE; Rummel, JA (1977). "Muscular deconditioning and its prevention in spaceflight". In Johndton, RS; Dietlien, LF ( ... muscle atrophy will occur. In the case of skeletal muscle atrophy in response to spaceflight or HS, a decrease in the capacity ... Accompanying the atrophy process noted above are the important observations that many (but not all) of the slow fibers in ...
https://en.wikipedia.org/wiki/Physiological_effects_in_space
LSM4LSM4
... proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN)". J. Biol. Chem. 275 (34): 26370 ...
https://en.wikipedia.org/wiki/LSM4
Muscular Dystrophy AssociationMuscular Dystrophy Association
... both hypokalemic and hyperkalemic polymyositis spinal and bulbar muscular atrophy spinal muscular atrophy The organization also ... "MDA Summer Camp". Muscular Dystrophy Association. 22 December 2017. "Participate in an Event , Muscular Dystrophy Association ... "Q&A: Meet Donald Wood, the Muscular Dystrophy Association's New CEO and President". Muscular Dystrophy News. Retrieved 19 April ... disease dermatomyositis Duchenne muscular dystrophy Emery-Dreifuss muscular dystrophy facioscapulohumeral muscular dystrophy ...
https://en.wikipedia.org/wiki/Muscular_Dystrophy_Association
Kosmos 2044Kosmos 2044
The objective of this experiment was to study microgravity related muscular atrophy effects in various types of muscle and in ... Effects of Muscle Atrophy on Motor End Plates: The objective of this experiment was to determine the effects of spaceflight on ... Skeletal Muscle Atrophy: The objective of this experiment was to determine the morphological and biochemical responses of ...
https://en.wikipedia.org/wiki/Kosmos_2044
The Gene: An Intimate HistoryThe Gene: An Intimate History
Later, this cancer spreads to her brain! Nusinersen is a medication used in treating spinal muscular atrophy (SMA). Jesse ... SMN2 is a gene that when mutated can cause spinal muscular atrophy (SMA). Although some genetic diseases are caused by defect ...
https://en.wikipedia.org/wiki/The_Gene:_An_Intimate_History
Human penisHuman penis
A series of muscular contractions delivers semen, containing male gametes known as sperm cells or spermatozoa, from the penis. ... Despite atrophy of blood vessels and nerves, the arteries, veins, nerves and the corpora spongiosa were successfully matched. ...
https://en.wikipedia.org/wiki/Human_penis
Culture of Saudi ArabiaCulture of Saudi Arabia
... spinal muscular atrophy, deafness and muteness. As a consequence of frequent consanguineous marriage, genetic counseling is a ...
https://en.wikipedia.org/wiki/Culture_of_Saudi_Arabia
Cold Spring Harbor LaboratoryCold Spring Harbor Laboratory
Adrian R. Krainer, developed nusinersen to treat spinal muscular atrophy (SMA), winner of the Breakthrough Prize in Life ...
https://en.wikipedia.org/wiki/Cold_Spring_Harbor_Laboratory
C. Frank BennettC. Frank Bennett
... a treatment for Spinal Muscular Atrophy, and several antisense drugs in clinical trials for Huntington's disease, Alzheimer's ... of an effective antisense oligonucleotide therapy for children with the neurodegenerative disease spinal muscular atrophy. C. ...
https://en.wikipedia.org/wiki/C._Frank_Bennett
39 Pounds of Love39 Pounds of Love
It stars Ami Ankilewitz, a 34-year-old Israeli 3D animator who lived with Spinal Muscular Atrophy (SMA). The documentary ...
https://en.wikipedia.org/wiki/39_Pounds_of_Love
IsoinertialIsoinertial
The isoinertial's muscle activity follows the muscular action of the sporting gesture or rather what the body or parts of it ... given that the absence of gravity led to an environment in which they experienced atrophy of the musculoskeletal system, no ...
https://en.wikipedia.org/wiki/Isoinertial
TGS1TGS1
"Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron ...
https://en.wikipedia.org/wiki/TGS1
Rehabilitation in spinal cord injuryRehabilitation in spinal cord injury
While passive weight bearing of paralyzed lower extremities appears to be ineffective, stressing the bones through muscular ... Other complications that arise from immobilization include muscle atrophy and osteoporosis, especially to the lower limbs, ...
https://en.wikipedia.org/wiki/Rehabilitation_in_spinal_cord_injury
VAPBVAPB
"A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis ... "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis ...
https://en.wikipedia.org/wiki/VAPB
Marek PluraMarek Plura
People with spinal muscular atrophy, Politicians with disabilities, All stub articles, Polish politician stubs, Polish MEP ...
https://en.wikipedia.org/wiki/Marek_Plura
Congenital disorder of glycosylationCongenital disorder of glycosylation
Their main features were psychomotor retardation, cerebral and cerebellar atrophy and fluctuating hormone levels (e.g.prolactin ... Mutations in several genes have been associated with the traditional clinical syndromes, termed muscular dystrophy- ...
https://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation
General paresis of the insaneGeneral paresis of the insane
... the development of muscular reflex abnormalities, seizures, memory impairment (dementia) and other signs of relatively ... as an organic mental disorder and is caused by late-stage syphilis and the chronic meningoencephalitis and cerebral atrophy ... seizures and severe muscular deterioration. Eventually, the paretic dies bedridden, cachectic and completely disoriented, ...
https://en.wikipedia.org/wiki/General_paresis_of_the_insane
Emilia ClarkeEmilia Clarke
The SMA Trust raises funds for research into spinal muscular atrophy. In August 2017, she became a patron of Open Door, a ...
https://en.wikipedia.org/wiki/Emilia_Clarke
Taiwan under Japanese ruleTaiwan under Japanese rule
The feet would remain small and dysfunctional, prone to infection, paralysis, and muscular atrophy. While such feet were ...
https://en.wikipedia.org/wiki/Taiwan_under_Japanese_rule
Spinal Muscular Atrophy (SMA) | CDCSpinal Muscular Atrophy (SMA) | CDC
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects approximately 1 out of every 10,000 people. Most cases of SMA ...
https://www.cdc.gov/nceh/dls/nsmbb_sma.html
Spinal muscular atrophy: MedlinePlus GeneticsSpinal muscular atrophy: MedlinePlus Genetics
... atrophy ) in muscles used for movement (skeletal muscles). Explore symptoms, inheritance, genetics of this condition. ... Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting ( ... spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular ... Spinal muscular atrophy affects 1 per 8,000 to 10,000 people worldwide. Spinal muscular atrophy type I is the most common type ...
https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/
Spinal Muscular Atrophy: Background, Pathophysiology, EpidemiologySpinal Muscular Atrophy: Background, Pathophysiology, Epidemiology
In the early 1980s, Werdnig and Hoffman described a disorder of progressive muscular weakness beginning in infancy that ... The spinal muscular atrophies (SMAs) comprise a group of autosomal-recessive disorders characterized by progressive weakness of ... encoded search term (Spinal Muscular Atrophy) and Spinal Muscular Atrophy What to Read Next on Medscape ... Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular ...
https://www.medscape.com/answers/1181436-177230/what-are-the-sexual-predilections-of-spinal-muscular-atrophy-sma
Spinal Muscular Atrophy: Background, Pathophysiology, EpidemiologySpinal Muscular Atrophy: Background, Pathophysiology, Epidemiology
In the early 1980s, Werdnig and Hoffman described a disorder of progressive muscular weakness beginning in infancy that ... The spinal muscular atrophies (SMAs) comprise a group of autosomal-recessive disorders characterized by progressive weakness of ... encoded search term (Spinal Muscular Atrophy) and Spinal Muscular Atrophy What to Read Next on Medscape ... Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular ...
https://emedicine.medscape.com/article/1181436
New Drug Transforming Outlook in Spinal Muscular AtrophyNew Drug 'Transforming' Outlook in Spinal Muscular Atrophy
Latest results from a phase 3 trial with the new drug for spinal muscular atrophy (SMA), the most common genetic cause of ... Cite this: New Drug Transforming Outlook in Spinal Muscular Atrophy - Medscape - Jan 17, 2017. ... FDA OKs Nusinersen, First Drug for Spinal Muscular Atrophy * 2001. New Treatment Benefits Children With Spinal Muscular Atrophy ... Two Deaths From Liver Failure Linked to Spinal Muscular Atrophy Drug * FDA Expands Indication for Spinal Muscular Atrophy Drug ...
https://www.medscape.com/viewarticle/874531
Spinal Muscular Atrophy (SMA) (for Parents) - Norton ChildrensSpinal Muscular Atrophy (SMA) (for Parents) - Norton Children's
... is a condition that causes muscle weakness and atrophy. Theres no cure, but therapy and other treatments can help most people ... Atrofia muscular espinal. What Is Spinal Muscular Atrophy (SMA)?. Spinal muscular atrophy (SMA) is a genetic condition that ... Because the muscles dont move, they get smaller (or atrophy).. What Causes SMA?. Most kinds of SMA are caused by a problem ... causes muscle weakness and atrophy (when muscles get smaller).. SMA can affect a childs ability to crawl, walk, sit up, and ...
https://kidshealth.org/NortonChildrens/en/parents/sma.html
Spinal Muscular Atrophy (SMA) (for Parents) - Nemours KidsHealthSpinal Muscular Atrophy (SMA) (for Parents) - Nemours KidsHealth
... is a condition that causes muscle weakness and atrophy. Theres no cure, but therapy and other treatments can help most people ... What Is Spinal Muscular Atrophy (SMA)?. Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and ... Because the muscles dont move, they get smaller (or atrophy).. What Causes SMA?. Most kinds of SMA are caused by a problem ... atrophy (when muscles get smaller).. SMA can affect a childs ability to crawl, walk, sit up, and control head movements. ...
https://www.kidshealth.org/en/parents/sma.html
Spinal Muscular Atrophy | Deccan ChronicleSpinal Muscular Atrophy | Deccan Chronicle
Drug for spinal muscular atrophy still not in India. The disease largely affects infants from six months of age who are robbed ...
https://www.deccanchronicle.com/content/tags/spinal-muscular-atrophy
Browsing by Subject Muscular Atrophy, SpinalBrowsing by Subject "Muscular Atrophy, Spinal"
Molecular diagnosis of spinal muscular atrophy in Egyptians  Shawky, R.M.; Abdel Aleem, K.; Rifaat, M.M.; Moustafa, A. (‎2001 ... This study was carried out with 33 spinal muscular atrophy [‎SMA]‎ patients. DNA molecular studies of the SMA gene on the long ...
https://extranet.who.int/iris/restricted/browse?authority=Muscular+Atrophy%2C+Spinal&type=mesh
Application of DNA-based tests for diagnosis of spinal muscular atrophy in Saudi Arabia
... ... Application of DNA-based tests for diagnosis of spinal muscular atrophy in Saudi Arabia. EMHJ - Eastern Mediterranean Health ... genes in patients with spinal muscular atrophy [‎SMA]‎ using polymerase chain reaction followed by restriction site assay ...
https://apps.who.int:80/iris/handle/10665/118823
Spinal Muscular Atrophy | Select 5-Minute Pediatrics TopicsSpinal Muscular Atrophy | Select 5-Minute Pediatrics Topics
Spinal Muscular Atrophy answers are found in the Select 5-Minute Pediatrics Topics powered by Unbound Medicine. Available for ... Spinal Muscular Atrophy is a topic covered in the Select 5-Minute Pediatrics Topics. To view the entire topic, please log in or ... Spinal Muscular Atrophy. (2015). In Cabana, M. D. (Ed.), Select 5-Minute Pediatrics Topics (7th ed.). Wolters Kluwer Health. ... "Spinal Muscular Atrophy." Select 5-Minute Pediatrics Topics, 7th ed., Wolters Kluwer Health, 2015. 5minute, www.unboundmedicine ...
https://www.unboundmedicine.com/5minute/view/Select-5-Minute-Pediatric-Consult/14044/all/Spinal_Muscular_Atrophy
Spinal Muscular Atrophy Center | Neurology CHKDSpinal Muscular Atrophy Center | Neurology CHKD
CHKDs Spinal Muscular Atrophy Center is led by world-renowned specialist Dr. Crystal Proud. ... Infants with spinal muscular atrophy may require more frequent visits.. Gene Therapy Treatment Offers Hope. Watch this video to ... The development of novel treatments for spinal muscular atrophy (SMA) has highlighted the need for comprehensive care for ... We offer evaluation and treatment opportunities for pediatric and adult patients with spinal muscular atrophy. CHKDs SMA Care ...
https://www.chkd.org/Our-Doctors/Medical-Specialists/Neurology/Spinal-Muscular-Atrophy-Center/
Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker StudyMotor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study
... J Neuromuscul Dis. 2018;5(4 ... Keywords: AIMS; CHOP-INTEND; NeuroNEXT; Spinal muscular atrophy; TIMPSI; clinical evaluator; motor function testing; ... Spinal Muscular Atrophies of Childhood / diagnosis* * Spinal Muscular Atrophies of Childhood / physiopathology ...
https://pubmed.ncbi.nlm.nih.gov/30223401/
Focal Muscular Atrophies Clinical Presentation: History, Physical, CausesFocal Muscular Atrophies Clinical Presentation: History, Physical, Causes
A wide variety of neurologic disorders may present with focal muscular atrophy (FMA). ... Focal atrophy of an individual muscle or group of muscles, often encountered clinically, may create diagnostic and therapeutic ... encoded search term (Focal Muscular Atrophies) and Focal Muscular Atrophies What to Read Next on Medscape ... Multidisciplinary, Specialized Care for Spinal Muscular Atrophy * Evolving Treatment Options for Pediatric Spinal Muscular ...
https://emedicine.medscape.com/article/1170572-clinical
Spinal Muscular Atrophy | St. Louis Childrens HospitalSpinal Muscular Atrophy | St. Louis Children's Hospital
What is spinal muscular atrophy (SMA)?. Spinal muscular atrophy is a genetic disease that affects the spinal cord and nerves, ... How is spinal muscular atrophy diagnosed?. The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset ... Treatment of spinal muscular atrophy. Specific treatment for spinal muscular atrophy will be determined by your childs doctor ... What are the symptoms of spinal muscular atrophy?. Spinal muscular atrophy is sometimes difficult to diagnose, as symptoms can ...
https://www.stlouischildrens.org/conditions-treatments/spinal-muscular-atrophy
Tag Archives: Spinal Muscular Atrophy
... his familys determination to give their son a whole and vital life after Philly was diagnosed with Spinal Muscular Atrophy, a ...
https://www.mediastorm.com/blog/tag/spinal-muscular-atrophy/
Spinal Muscular Atrophy - PAN FoundationSpinal Muscular Atrophy - PAN Foundation
Spinal Muscular Atrophy (SMA) is a group of hereditary diseases that progressively destroy motor neurons that control essential ... Spinal Muscular Atrophy. Check if this fund has other names or covered subtypes. ...
https://www.panfoundation.org/disease-funds/spinal-muscular-atrophy/
Fast Five Quiz: Spinal Muscular AtrophyFast Five Quiz: Spinal Muscular Atrophy
Multidisciplinary, Specialized Care for Spinal Muscular Atrophy * Evolving Treatment Options for Pediatric Spinal Muscular ... Best Practices in the Care of Adult Patients With Spinal Muscular Atrophy 0.5 CME / CE / ABIM MOC Credits ... Best Practices in the Care of Adult Patients With Spinal Muscular Atrophy ... Physical Medicine and Rehabilitation for Limb-Girdle Muscular Dystrophy * ...
https://reference.medscape.com/viewarticle/943823_5
Study suggests new strategy for spinal muscular atrophy - Scope
Study suggests new strategy for spinal muscular atrophy. Author Roberta FriedmanPublished on March 1, 2010. December 19, 2017. ... A Nature Biotechnology article this week gives yet another bit of hope for families whose babies have spinal muscular atrophy ( ...
https://scopeblog.stanford.edu/2010/03/01/study_suggests/
Spinal Muscular Atrophy in Children | Cedars-SinaiSpinal Muscular Atrophy in Children | Cedars-Sinai
Spinal muscular atrophy (SMA) is a disease of the nerves and muscles caused by certain genes. It causes muscle wasting and ... What is spinal muscular atrophy in children?. Spinal muscular atrophy (SMA) is a disease of the nerves and muscles caused by ... What causes spinal muscular atrophy in a child?. SMA is caused by a faulty or missing gene called SMN1. SMA is an autosomal ... Which children are at risk for spinal muscular atrophy?. A child is more at risk for SMA if he or she has a parent or sibling ...
https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/s/spinal-muscular-atrophy-in-children.html
What Is Spinal Muscular Atrophy? | Northwestern MedicineWhat Is Spinal Muscular Atrophy? | Northwestern Medicine
Learn about spinal muscular atrophy (SMA) and how advocacy is driving new research and treatment options. ... Spinal muscular atrophy (SMA) is a rare genetic disease affecting the central nervous system, peripheral nervous system and ... Eventually, this can lead to atrophy, or progressive muscle weakness or wasting. ...
https://www.nm.org/healthbeat/medical-advances/new-therapies-and-drug-trials/what-is-spinal-muscular-atrophy
ECHO: Advancing Team-Based Care for Spinal Muscular Atrophy | Stanford Center for Continuing Medical Education | Stanford...ECHO: Advancing Team-Based Care for Spinal Muscular Atrophy | Stanford Center for Continuing Medical Education | Stanford...
Advancing Team-Based Care for Spinal Muscular Atrophy ... Advancing Team-Based Care for Spinal Muscular Atrophy A Multi- ...
https://med.stanford.edu/cme/echos/echosma.html
Spinal muscular atrophy: untangling the knot? | Journal of Medical GeneticsSpinal muscular atrophy: untangling the knot? | Journal of Medical Genetics
1990) Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12- q14. The French Spinal Muscular Atrophy ... 1956) Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. Arch Neurol Psychiatry 75:500-509, , cited in ... 1996) Spinal muscular atrophies: recent insights and impact on molecular diagnosis. J Mol Med 74:555-562. ... 1993) A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 2:1161-1167. ...
https://jmg.bmj.com/content/36/1/1
Fighting Muscular Atrophy, 1 rep at a timeFighting Muscular Atrophy, 1 rep at a time
Decided to run a low stress week. May do a mini peak after this, may continue to rebuild SQ. Probably need to do a mini peak and shift the focus for a little while. May shoot for 455 SQ, 365 B, 235 OHP and 535 DL ...
https://startingstrength.com/resources/forum/intermediate-training-logs/51278-fighting-muscular-atrophy-1-rep-time-73-print.html?s=80229e8b002b7e2d9eac4551e83ca8d4
Spinal Muscular Atrophy (SMA) Expert Witness - HGExperts.comSpinal Muscular Atrophy (SMA) Expert Witness - HGExperts.com
Find nationwide Spinal Muscular Atrophy (SMA) expert witnesses providing testimony and expert opinion in a court of law, for ...
https://www.hgexperts.com/expert-witnesses-spinal-muscular-atrophy-
Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls |...Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls |...
There is little information about survival of spinal muscular atrophy (SMA) patients into adulthood, in particular from ... Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by the degeneration of motor neurons in the anterior ... Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51(2):157-67. ... Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls. * ...
https://link.springer.com/article/10.1007/s40120-021-00307-7
A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec - Full Text View -...A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec - Full Text View -...
Muscular Atrophy. Muscular Atrophy, Spinal. Atrophy. Pathological Conditions, Anatomical. Neuromuscular Manifestations. ... A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec (RESPOND). The ... A Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec. ... Genetic and Rare Diseases Information Center resources: Spinal Muscular Atrophy Amyotrophic Lateral Sclerosis ...
https://clinicaltrials.gov/ct2/show/NCT04488133
spinal-muscular-atrophy - Muscle Help Foundationspinal-muscular-atrophy - Muscle Help Foundation
Copyright © The Muscle Help Foundation 2022. The Muscle Help Foundation is Registered Charity No. 1096716 Muscle Dreams and Muscle Warriors are parts of The Muscle Help Foundation ...
https://www.musclehelp.com/upcoming-events/sizzling-657-summer-bbq/untitled-1/
Spinal Muscular Atrophy Diagnosis and Carrier Screening from Whole Genome Sequencing DataSpinal Muscular Atrophy Diagnosis and Carrier Screening from Whole Genome Sequencing Data
SMNCopyNumberCaller enables accurate copy number calling of the highly similar SMN1 and SMN2 for spinal muscular atrophy ... Spinal muscular atrophy Lancet. 2008; 371(9630):2120-2133.. *Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. ... Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 2009;10( ... Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med. 2020;22(5):945-953. ...
https://www.illumina.com/science/genomics-research/articles/sma-carrier-screening-wgs-data.html
PRIME® Booster Quiz - Advancing Diagnostic Assessment of Spinal Muscular AtrophyPRIME® Booster Quiz - Advancing Diagnostic Assessment of Spinal Muscular Atrophy
Recent years have witnessed advancements in symptom management and treatment options for patients with spinal muscular atrophy ... Are you struggling to keep up-to-date with the evolving clinical research and guidelines for spinal muscular atrophy (SMA)? ... Describe the signs and symptoms of spinal muscular atrophy (SMA) to support prompt and accurate diagnosis across different life ... Recent years have witnessed advancements in symptom management and treatment options for patients with spinal muscular atrophy ...
https://primeinc.org/online/advancing-diagnostic-assessment-spinal-muscular-atrophy
Children with spinal musculaAdult patients with spinal musculaWeaknessForms of spinal musculaSymptoms of spinal musculaTherapy for spinal musculaTreatment for spinal musculaSpinal and bulbar muscular atrophyProximal spinal musculaNusinersenTypes of spinalNeuromuscular diseaseHereditaryDiagnosisMusclesMotor neuronBulbarRespiratorySMAsRare diseasesDisorderDiseaseDuchenne MuscularGenesAutosomal dominantDisordersInfantsSBMAGeneDystrophy AssociationOnsetSMN1PatientsMedscapeCerebral palsySeverityType10,000
Children with spinal muscula4
  • Most children with spinal muscular atrophy type I do not survive past early childhood due to respiratory failure. (medlineplus.gov)
  • It treats children with spinal muscular atrophy and parents of children with the fatal disease are asking for answers. (allure.com)
  • Zolgensma was approved by the U.S. Food and Drug Administration to treat children with spinal muscular atrophy (SMA), a rare and often fatal disease caused by mutations in the SMN1 gene. (allure.com)
  • In this retrospective study the clinical features in 16 children with spinal muscular atrophy (SMA) were reviewed and classified into three stages. (who.int)
Adult patients with spinal muscula1
  • We offer evaluation and treatment opportunities for pediatric and adult patients with spinal muscular atrophy. (chkd.org)
Weakness16
  • Spinal muscular atrophy type II (also called Dubowitz disease) is characterized by muscle weakness that develops in children between ages 6 and 12 months. (medlineplus.gov)
  • Spinal muscular atrophy type III (also called Kugelberg-Welander disease) typically causes muscle weakness after early childhood. (medlineplus.gov)
  • The spinal muscular atrophies (SMAs) comprise a group of autosomal-recessive disorders characterized by progressive weakness of the lower motor neurons. (medscape.com)
  • In the early 1890s, Werdnig and Hoffman described a disorder of progressive muscular weakness beginning in infancy that resulted in early death, though the age of death was variable. (medscape.com)
  • Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness and atrophy (when muscles get smaller). (kidshealth.org)
  • Spinal muscular atrophy is a genetic disease that affects the spinal cord and nerves, resulting in muscle wasting and weakness. (stlouischildrens.org)
  • Eventually, this can lead to atrophy, or progressive muscle weakness or wasting. (nm.org)
  • The term spinal muscular atrophy (SMA) comprises a clinically and genetically heterogeneous group of diseases characterised by degeneration and loss of the anterior proximal horn cells in the spinal cord, and sometimes also in the brainstem nuclei, resulting in muscle weakness and atrophy. (bmj.com)
  • A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. (umassmed.edu)
  • Spinal muscular atrophy (SMA) refers to a diverse group of genetic disorders characterized by degeneration of anterior horn cells of the spinal cord and brainstem motor nuclei with resultant muscle atrophy and progressive weakness. (aapmr.org)
  • SBMA is characterized by the loss of lower motor neurons and skeletal muscle fasciculations, weakness, and atrophy. (elsevier.com)
  • Soon after, Professor Johann Hoffmann from Heidelberg University presented a paper describing a syndrome of progressive atrophy, weakness, and death during the early childhood period of siblings with genetically normal parents. (medscape.com)
  • spinal muscular atrophy patients present muscle weakness, orthopedic problems, nutritional complications and respiratory impairment. (bvsalud.org)
  • It treats a group of rare genetic disorders called spinal muscular atrophies (SMAs) that cause loss of nerve cells that control skeletal muscles (muscles that allow us to move) leading to weakness. (medlineplus.gov)
  • Muscular dystrophies are a group of inherited diseases that cause muscle wasting and weakness. (medlineplus.gov)
  • Its provenance lies in the evolution of muscle weakness that leads ALS to muscular frame atrophy. (medacess.com)
Forms of spinal muscula2
  • Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy , spinal muscular atrophy with lower extremity predominance , X-linked infantile spinal muscular atrophy , and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes. (medlineplus.gov)
  • Male individuals are most frequently affected, especially with the early-onset forms of spinal muscular atrophy, ie, types I and II. (medscape.com)
Symptoms of spinal muscula2
Therapy for spinal muscula1
  • Nusinersen is an antisense oligonucleotide therapy for spinal muscular atrophy (SMA), which targets the SMN2 pre-messenger RNA to increase production of SMN2. (aanem.org)
Treatment for spinal muscula3
  • Irvine stem cell therapeutics company California Stem Cell Inc. has applied to the federal Food & Drug Administration to start a Phase I safety study on a stem cell-derived motor neuron transplantation treatment for spinal muscular atrophy. (uci.edu)
  • SOUTH PLAINFIELD, N.J. , Aug. 7, 2020 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that the U.S. Food and Drug Administration (FDA) has approved Evrysdi™ (risdiplam), the first at-home, orally administered treatment for spinal muscular atrophy (SMA) in adults and children 2 months and older. (ptcbio.com)
  • We are proud that the first oral treatment for spinal muscular atrophy patients was discovered through our splicing platform. (ptcbio.com)
Spinal and bulbar muscular atrophy1
  • Spinal and bulbar muscular atrophy (SBMA) is an inherited neuromuscular disease caused by expansion of a polyglutamine (polyQ) tract in the androgen receptor (AR). (elsevier.com)
Proximal spinal muscula2
  • Spinal muscular atrophy (SMA), also called autosomal recessive proximal spinal muscular atrophy in order to distinguish it from other conditions with similar name - is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death. (checkorphan.org)
  • To determine the value of a continuous repetitive task to detect and quantify fatigability as additional dimension of impaired motor function in patients with hereditary proximal spinal muscular atrophy (SMA). (biomedcentral.com)
Nusinersen3
  • There are currently two FDA approved medications for the treatment of spinal muscular atrophy, Spinraza (nusinersen) and Zolgensma (onasemnogene abeparvovec-xioi). (chkd.org)
  • The primary objective of this study is to evaluate the clinical outcomes following treatment with Nusinersen in participants with spinal muscular atrophy (SMA) who previously received onasemnogene abeparvovec. (clinicaltrials.gov)
  • The primary objective of the study is to examine the clinical efficacy of nusinersen (ISIS 396443) administered intrathecally (IT) to participants with infantile-onset with infantile-onset spinal muscular atrophy (SMA). (clinicaltrials.gov)
Types of spinal4
  • There are many types of spinal muscular atrophy that are caused by changes in the same genes. (medlineplus.gov)
  • Mutations in the SMN1 gene cause all types of spinal muscular atrophy described above. (medlineplus.gov)
  • Since then, several types of spinal muscular atrophies have been described based on age when accompanying clinical features appear. (medscape.com)
  • There are four types of spinal muscular atrophy based on symptoms and age of onset. (stlouischildrens.org)
Neuromuscular disease1
  • Spinal muscular atrophy (SMA) is a recessive, autosomal neuromuscular disease characterized by degeneration of anterior horn spinal cord motor cells and brain stem neurons 1-5 . (bvsalud.org)
Hereditary3
  • Spinal Muscular Atrophy (SMA) is a group of hereditary diseases that progressively destroy motor neurons that control essential muscle activity such as speaking, walking, breathing and swallowing. (panfoundation.org)
  • Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (umassmed.edu)
  • Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that damage and kill motor neurons in the brain and spinal cord. (medscape.com)
Diagnosis2
  • The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. (stlouischildrens.org)
  • Genetic testing confirmed a diagnosis of spinal-bulbar muscular atrophy (Kennedy disease). (elsevier.com)
Muscles7
  • Because the muscles don't move, they get smaller (or atrophy). (kidshealth.org)
  • Spinal muscular atrophy (SMA) is a disease of the nerves and muscles caused by certain genes. (cedars-sinai.org)
  • Consequently, denervated muscles undergo progressive atrophy. (checkorphan.org)
  • For example, atrophy and dysfunction of respiratory muscles lead to death in ALS patients ( Rothstein, 2009 ). (elifesciences.org)
  • Skeletal muscles (commonly referred to as muscles) are organs of the vertebrate muscular system that are mostly attached by tendons to bones of the skeleton. (medera.bio)
  • Exercise can help the patient to retain or improve muscle strength, minimize atrophy of the muscles caused by disuse, increase endurance, reduce fatigue, prevent spasms and cramps, and maintain or improve ROM. (medscape.com)
  • Exercise may also help to slow the development of disuse atrophy, which occurs in muscles that are not being used (eg, in calf muscles of people who use wheelchairs). (medscape.com)
Motor neuron4
  • In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. (medscape.com)
  • BACKGROUND: Data on combining molecular therapies that increase survival motor neuron protein for spinal muscular atrophy type 1 (SMA1) is lacking. (luriechildrens.org)
  • Spinal muscular atrophy (SMA) is a leading genetic cause of infantile death and is caused by the loss of survival motor neuron-1 ( SMN1 ). (jci.org)
  • AveXis, a Novartis company, today announced the US Food and Drug Administration (FDA) has approved Zolgensma® (onasemnogene abeparvovec-xioi) for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene. (genetherapynet.com)
Bulbar1
  • Skoretz, SA, Yee, MS & Martino, R 2012, ' Complications after cardiovascular surgery in a case of undiagnosed spinal-bulbar muscular atrophy (Kennedy disease) ', American Journal of Critical Care , vol. 21, no. 2, pp. 139+136-138. (elsevier.com)
Respiratory1
  • SMA children suffer from stunted development due to nutritional, muscular, postural and respiratory alterations. (bvsalud.org)
SMAs2
  • Spinal muscular atrophies (SMAs) represent a rare group of inherited disorders that cause progressive degeneration of the anterior horn cells of the spinal cord. (medscape.com)
  • SMAs were first described in the 1890s, by Guido Werdnig, a physician from the University of Vienna, in his lecture "On a Case of Muscular Dystrophy with Positive Spinal Cord Findings. (medscape.com)
Rare diseases2
  • A Nature Biotechnology article this week gives yet another bit of hope for families whose babies have spinal muscular atrophy (SMA), one of those rare diseases you probably never heard of. (stanford.edu)
  • This article describes two rare diseases - spinal muscular atrophy and Duchenne muscular dystrophy - and how NIH supports research and development on gene therapies to treat them. (medlineplus.gov)
Disorder4
  • Spinal Muscular Atrophy (SMA) is a genetic disorder that affects approximately 1 out of every 10,000 people. (cdc.gov)
  • Spinal muscular atrophy (SMA) is a progressive disorder of motor neurons in the spinal cord and brainstem. (unboundmedicine.com)
  • Spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of neuromuscular diseases, is a disorder of motor neurones characterised by degeneration of spinal cord anterior horn cells and muscular atrophy. (bmj.com)
  • Spinal muscular atrophy is an inherited disorder and is passed on in an autosomal recessive manner. (checkorphan.org)
Disease9
  • Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) is the most common form of the condition. (medlineplus.gov)
  • A history of affected family members may suggest genetic disorders such as spinal muscle atrophy (SMA) or a familial clustering due to infectious disease or environmental mechanisms. (medscape.com)
  • The short film documents his family's determination to give their son a whole and vital life after Philly was diagnosed with Spinal Muscular Atrophy, a genetic disease that leaves the spine underdeveloped. (mediastorm.com)
  • Spinal muscular atrophy (SMA) is a rare genetic disease affecting the central nervous system, peripheral nervous system and voluntary muscle movement. (nm.org)
  • PAF's Co-Pay Relief (CPR) program is pleased to announce that assistance will now be available to patients with spinal muscular atrophy and hepatocellular carcinoma through the launch of two new disease funds that can provide direct payment for co-payments, co-insurance and deductibles required by the patient's insurer for medications prescribed to treat and manage their disease. (copays.org)
  • Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice. (ox.ac.uk)
  • Intracellular amyloid-like inclusions formed by mutant proteins result from polyglutamine expansions in Huntington's disease (HD) and polyalanine expansions in polyadenine binding protein 2 (PABP2) in oculopharyngeal muscular dystrophy (OPMD). (bmj.com)
  • It has obvious curative effect and preventive effect on senile diseases such as arteriosclerosis, diabetes, heart disease, thrombophlebitis, reproductive dysfunction, muscular atrophy and nutritional encephalomalacia. (yufengholding.cn)
  • 2016). A DYNC1H1 mutation in autosomal dominant spinal muscular atrophy shows the potential of pharmacological inhibition of histone deacetylase 6 as a treatment for disease associated cellular phenotypes . (city.ac.uk)
Duchenne Muscular2
  • Duchenne muscular dystrophy (or DMD) is the most common muscular dystrophy in children, and it mostly affects boys in early childhood. (medlineplus.gov)
  • Specific disorders include Glut1 deficiency, mitochondrial diseases, epilepsy, Duchenne muscular dystrophy, Spinal Muscular Atrophy (SMA) and other pediatric neuromuscular diseases. (nyp.org)
Genes3
  • We then characterized the induction of several p53 family members (p53, p63, p73) and a correlation between the levels of p53 family target genes and the severity of muscle atrophy in ALS patients and mice. (elifesciences.org)
  • Altogether, these results suggest a novel function for p63 as a contributor to muscular atrophic processes via the regulation of multiple genes, including the muscle atrophy gene Trim63 . (elifesciences.org)
  • Some muscular dystrophies are caused by mutations in genes that make important muscle proteins. (medlineplus.gov)
Autosomal dominant1
  • The second type of codon reiteration mutation results in autosomal dominant oculopharyngeal muscular dystrophy (OPMD). (bmj.com)
Disorders3
  • The spinal muscular atrophies are the second most common autosomal-recessive inherited disorders after cystic fibrosis . (medscape.com)
  • Spinal muscular atrophy disorders affect 1/6000 to 1/10,000 infants, with a carrier frequency in the general population of 1/40. (aapmr.org)
  • These kinds of genetic medicines also have the potential for treating genetic defects that cause other neurological disorders including other rare muscular disorders. (medlineplus.gov)
Infants4
  • Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital). (medlineplus.gov)
  • Latest results from a phase 3 trial with the new drug for spinal muscular atrophy (SMA), the most common genetic cause of childhood mortality, show that it can bring about large improvements in both motor function and survival in infants with this condition. (medscape.com)
  • Infants with spinal muscular atrophy may require more frequent visits. (chkd.org)
  • Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. (umassmed.edu)
SBMA1
  • Spinobulbar muscular atrophy (SBMA) is caused by CAG expansions in the androgen receptor gene . (bvsalud.org)
Gene4
  • More than 95% of patients with spinal muscular atrophy have a homozygous disruption in the SMN1 gene on chromosome 5q, caused by mutation, deletion, or rearrangement. (medscape.com)
  • On 24 March, Novartis announced new anticipated long-term positive data for its one-time infusion gene therapy, Zolgensma (onasemnogene abeparvovec-xioi), that showed significant therapeutic benefit in patients with spinal muscular atrophy (SMA) over a range of extended studies, covering patients treated presymptomatically, and sustained durability in patients up to five years post-dosing. (pharmaceutical-technology.com)
  • Spinal muscular atrophy is linked to a genetic mutation in the SMN1 gene. (checkorphan.org)
  • LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice. (bvsalud.org)
Dystrophy Association1
  • This activity is delivered in partnership with the Muscular Dystrophy Association (MDA). (primeinc.org)
Onset3
  • The mortality and/or morbidity rates of spinal muscular atrophy are inversely correlated with the age at onset. (medscape.com)
  • Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. (medscape.com)
  • There is little information about survival of spinal muscular atrophy (SMA) patients into adulthood, and it is commonly accepted that patients with later-onset SMA, who often live to older ages, have a mortality rate similar to the general population. (springer.com)
SMN11
  • However, all patients with spinal muscular atrophy retain at least 1 copy of SMN2 , which generates only 10% of the amount of full-length SMN protein versus SMN1 . (medscape.com)
Patients8
  • This study was carried out with 33 spinal muscular atrophy [‎SMA]‎ patients. (who.int)
  • There is little information about survival of spinal muscular atrophy (SMA) patients into adulthood, in particular from population-based samples. (springer.com)
  • Recent years have witnessed advancements in symptom management and treatment options for patients with spinal muscular atrophy (SMA). (primeinc.org)
  • Genetic counseling should be offered to all families of patients with spinal muscular atrophy. (medscape.com)
  • Both physicians conducted autopsies on their patients and found severe atrophy of the ventral roots of the spinal cord. (medscape.com)
  • to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
  • patients with spinal muscular atrophy presented higher adiposity and lower chest expansion. (bvsalud.org)
  • Therefore, the aim of this study is verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. (bvsalud.org)
Medscape1
  • Fast Five Quiz: Spinal Muscular Atrophy - Medscape - Jan 14, 2021. (medscape.com)
Cerebral palsy1
  • For children born with special needs requiring water therapy, such as spina bifida, spinal muscular atrophy type 1 or cerebral palsy, the devices can be especially dangerous because of the increased risk of neck strain and injury, according to the FDA. (kdvr.com)
Severity1
  • Spinal muscular atrophy manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. (checkorphan.org)
Type10
  • Spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition. (medlineplus.gov)
  • Individuals with spinal muscular atrophy type II cannot stand or walk unaided. (medlineplus.gov)
  • The life span of individuals with spinal muscular atrophy type II varies, but many people with this condition live into their twenties or thirties. (medlineplus.gov)
  • People with spinal muscular atrophy type III typically have a normal life expectancy. (medlineplus.gov)
  • Spinal muscular atrophy type IV is rare and often begins in early adulthood. (medlineplus.gov)
  • Spinal muscular atrophy type I is the most common type, accounting for about half of all cases. (medlineplus.gov)
  • The clinical features in Type III SMA resembled with limb-girdle muscular dystrophy and the muscle biopsy was useful in distinguishing these two entities. (who.int)
  • They know that Emmett has Spinal Muscular Atrophy, type 1 (hmmm? (emmetts-journey.com)
  • When Emmett turned one year old we wrote a blog post that we hoped would best describe in everyday language what Spinal Muscular Atrophy, Type 1 does to the body's systems. (emmetts-journey.com)
  • தஞ்சாவூர் செப்.3- தஞ்சாவூர் நாஞ்சிக்கோட்டை சாலை சிராஜ்பூர் நகர், பகுதியை சேர்ந்த ரெப்கோ வங்கியில் பணிபுரியும் ஜெகதீஷ், எழிலரசி, தம்பதியரின் 21, மாத பிஞ்சு குழந்தை பாரதி, முதுகுத்தண்டு வட தசைநார்ச் சிதைவு (Spinal Muscular Atrophy - Type 2) என்னும் மரபணு நோயால் பாதிக்கப்பட்டுள்ளார். (thanjai.today)
10,0001
  • Spinal muscular atrophy affects 1 per 8,000 to 10,000 people worldwide. (medlineplus.gov)