Cerebral Palsy: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)Motor Skills: Performance of complex motor acts.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)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.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.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.L-Lactate Dehydrogenase: A tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of LACTATE and PYRUVATE. In vertebrates, genes for three different subunits (LDH-A, LDH-B and LDH-C) exist.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Lactates: Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR.Lactate Dehydrogenases: Alcohol oxidoreductases with substrate specificity for LACTIC ACID.Glycogen Storage Disease Type I: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.Isoenzymes: Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.North CarolinaGenetic 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.Genetics: The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)Protestantism: The name given to all Christian denominations, sects, or groups rising out of the Reformation. Protestant churches generally agree that the principle of authority should be the Scriptures rather than the institutional church or the pope. (from W.L. Reese, Dictionary of Philosophy and Religion, 1999)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.Molecular Biology: A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.Hospitals, Religious: Private hospitals that are owned or sponsored by religious organizations.Motor Neurons: Neurons which activate MUSCLE CELLS.Spinal Cord: A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.Disabled Persons: Persons with physical or mental disabilities that affect or limit their activities of daily living and that may require special accommodations.Electronic Mail: Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Software: Sequential operating programs and data which instruct the functioning of a digital computer.User-Computer Interface: The portion of an interactive computer program that issues messages to and receives commands from a user.Information Storage and Retrieval: Organized activities related to the storage, location, search, and retrieval of information.Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.Rhodopsin: A purplish-red, light-sensitive pigment found in RETINAL ROD CELLS of most vertebrates. It is a complex consisting of a molecule of ROD OPSIN and a molecule of 11-cis retinal (RETINALDEHYDE). Rhodopsin exhibits peak absorption wavelength at about 500 nm.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.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Retinal Degeneration: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)Electroretinography: Recording of electric potentials in the retina after stimulation by light.
  • It worsens mutations like the one that causes Huntington's disease or myotonic dystrophy," Dr. Pearson explains. (healthcanal.com)
  • 2013) Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (els.net)
  • however, in humans, mutations in LMNA are associated with a range of diseases known as laminopathies. (genetics.org)
  • A genetic test is the analysis of human deoxyribonucleic acid (DNA), ribonucleic acid (RNA), chromosomes, and proteins to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes (standard pictures of the chromosomes in a cell) for the purposes of diagnosis, treatment, and other clinical decision making. (encyclopedia.com)
  • SMA type I is also known as severe infantile SMA or Werdnig-Hoffmann disease. (medindia.net)
  • A visual prosthesis may be an option in certain people with severe disease. (wikipedia.org)
  • SMA type 1 (Werdnig-Hoffmann disease) is the most severe and common type, which accounts for about 50% of patients diagnosed with SMA. (biomedcentral.com)
  • Cmah -deficient mdx mice display an accelerated disease onset and severe cardiac phenotype due to differences in glycosylation between humans and mice. (iospress.com)
  • In 2002 when people suddenly began to fall ill with an unknown illness, it was genetics - DNA analysis - that rapidly identified the cause as Severe Acute Respiratory Syndrome (SARS). (cnn.com)
  • Couples must also understand that the test cannot predict how severe the disease will be-although the type 1 SMA occurs in about 70 percent of cases, and milder types of SMA account for 30 percent. (news-medical.net)
  • Other muscular atrophies have a different and often very severe course. (wikipedia.org)
  • Studies have demonstrated that introduction of the γ-sarcoglycan-null allele onto the DBA/2J background confers a more severe muscular dystrophy phenotype than the original strain, demonstrating the presence of genetic modifier loci in the DBA/2J background. (jax.org)
  • We found that D2-mdx mice showed significantly reduced skeletal muscle function as early as 7 weeks and reduced cardiac function by 28 weeks, suggesting that the disease phenotype is more severe than in B10-mdx mice. (jax.org)
  • SMA can be classified into five clinical grades based on age of onset and severity of the disease. (frontiersin.org)
  • RP may be: (1) Non-syndromic, that is, it occurs alone, without any other clinical findings, (2) Syndromic, with other neurosensory disorders, developmental abnormalities, or complex clinical findings, or (3) Secondary to other systemic diseases. (wikipedia.org)
  • This review reports a comprehensive update on the genetic bases and the main clinical aspects of these groups of diseases according to protein defect and transmission modality. (els.net)
  • During your visit, you will see a genetics expert (genetic counselor and/or clinical geneticist) for a genetics evaluation. (clevelandclinic.org)
  • The eponymous label Werdnig-Hoffmann disease (sometimes misspelled with a single n) refers to the earliest clinical descriptions of childhood SMA by Johann Hoffmann and Guido Werdnig. (wikipedia.org)
  • Geared towards educators, students and health professionals, this guide offers educational and clinical resources regarding human genetics. (geometry.net)
  • Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Scale (CSS) scores. (springer.com)
  • The flaw leading to DMD prevents the formation of any dystrophin, while that of BMD allows some protein to be made, accounting for the differences in severity and onset between the two diseases. (encyclopedia.com)
  • Research has focused on strategies to increase the body's production of the SMN protein lacking in the chromosome 5-related forms of the disease. (mda.org)
  • This paper is titled "MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice," published on-line in PLOS Genetics on February 28, 2013. (healthcanal.com)
  • Cell biology and genetics of membrane trafficking and protein degradation. (colorado.edu)
  • Since exon 7 is sometimes included in SMN2 transcripts, some full-length SMN protein can be produced, albeit as very low levels (~10-20%) that are insufficient to prevent disease. (biomedcentral.com)
  • The number of SMN2 copies varies within the general population, and is inversely associated with disease severity as having more SMN2 copies ensures that the absolute amount of SMN protein that is produced is higher. (biomedcentral.com)
  • Outstanding areas of medical research at the University of Alberta include diabetes, obesity, virology, heart disease, motor control and rehabilitation, protein structure and function, and transplantation. (ualberta.ca)
  • A recent study published in Southern Medical Journal, led by researchers from the University of South Florida identifies a genetic variation known to affect sickle cell disease symptomology. (medicalxpress.com)
  • Researchers studying Alzheimer's disease have created an approach to classify patients with Alzheimer's disease, a finding that may open the door for personalized treatments. (medicalxpress.com)
  • The study sheds light on an often misunderstood group of diseases, and researchers hope the data will be useful to doctors serving at-risk groups. (laopinion.com)
  • Newspapers report today that researchers have recreated a genetic disease in a laboratory. (www.nhs.uk)
  • Prior to this, researchers have had to rely on animal models of the condition to study this disease. (www.nhs.uk)
  • The researchers claim to be the first to have used human induced pluripotent stem cells to demonstrate the changes in cell survival or function typical of this disease. (www.nhs.uk)
  • Genetic testing has enabled researchers and clinicians to detect inherited traits, diagnose heritable conditions, determine and quantify the likelihood that a heritable disease will develop, and identify genetic susceptibility to familial disorders. (encyclopedia.com)
  • aims to bring together leading academic scientists, researchers and research scholars to exchange and share their experiences and research results on all aspects of Neuromuscular Diseases. (waset.org)
  • To this end, researchers have begun collecting specimens for molecular analyses in epidemiologic studies and surveys in order to identify genetic risk factors for disease ( 2 ). (cdc.gov)
  • But recently researchers found that stem cells could become more than disease treatments. (wired.com)
  • Because stem cells are primordial, these new lines will allow researchers to literally watch diseases develop, which could give them new insights into how to thwart them. (wired.com)
  • On Aug. 9, 2001, Bush announced that researchers would be prohibited from using federal funds to perform embryonic stem-cell research on any stem-cell lines derived after 9 p.m. that day, a move that many researchers say significantly slowed progress in finding treatments for diseases. (wired.com)
  • Biochemists and Parkinson's researchers at Edinburgh University subjected Milne to a blind test in which she sniffed six sweaty t-shirts from patients suffering from the disease and six from normal, healthy individuals. (mysteriousuniverse.org)
  • No one knows yet if stem cells will work as therapies, but scientists have high hopes that the cells could replace damaged or dead cells in people with spinal-cord injuries, Alzheimer's, Parkinson's and many other diseases. (wired.com)
  • One day Joy was at a lecture on awareness of Parkinson's disease when she was suddenly overwhelmed by that same distinctive musky odor she had long smelled on her husband, even though he wasn't with her at the time. (mysteriousuniverse.org)
  • She was overcome with the sudden realization that she somehow possessed the strange ability to actually smell Parkinson's disease, and she would go on to have this ability tested and observed. (mysteriousuniverse.org)
  • So if I'm a researcher who has spent my whole life researching muscular dystrophy, why should I not be able to work on that line? (wired.com)
  • He is Senior Scientist in Genetics & Genome Biology at SickKids and is Associate Professor of Molecular Genetics at University of Toronto. (healthcanal.com)
  • To determine if Drosophila might serve as a useful model to study lamin biology and disease mechanisms, we generated transgenic flies expressing mutant LamC proteins modeled after human disease-causing lamins. (genetics.org)
  • This course provides the basic biology you need to understand all of these issues better, tries to clarify some misconceptions, and tries to prepare students for future, more advanced coursework in Biology (and especially evolutionary genetics). (coursera.org)
  • Rando, the paper's senior author, is director of the Glenn Laboratories for the Biology of Aging and founding director of the Muscular Dystrophy Association Clinic at Stanford. (healthcanal.com)
  • The idiopathic inflammatory myopathies, or myositis syndromes, are heterogeneous autoimmune diseases defined by chronic muscle inflammation of unknown cause. (labome.org)
  • MedlinePlus says that muscle disorders can occur as a result of injury, overuse, infections, medications, genetics and inflammation. (livestrong.com)
  • Efforts in bridging these serum circulating biomarkers to disease progression and response to therapies have been undertaken. (nature.com)
  • The search for biomarkers that can aid diagnosis, characterize phenotype, define pathophysiology, identify endpoints in trials and measure disease progression is of utmost importance for the field. (clinicaltrials.gov)