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 ProteinSpinal CordMuscle WeaknessMuscular Disorders, AtrophicBulbo-Spinal Atrophy, X-LinkedSpinal Cord InjuriesNeuronal Apoptosis-Inhibitory ProteinCyclic AMP Response Element-Binding ProteinMotor NeuronsAnterior Horn CellsRNA-Binding ProteinsNerve Tissue ProteinsSpinal Cord DiseasesMotor Neuron DiseaseOptic AtrophyRibonucleoproteins, Small NuclearDEAD Box Protein 20Spinal Nerve RootsDisease Models, AnimalInjections, SpinalChromosomes, Human, Pair 5ExonsMuscle, SkeletalSpinal NervesNeuromuscular DiseasesCoiled BodiesMultiple System AtrophyAnesthesia, SpinalSpinal Cord NeoplasmsSpinal Cord CompressionReceptors, AndrogensnRNP Core ProteinsSpinal CanalSpinal DiseasesElectromyographyPedigreeSpinal NeoplasmsBulbar Palsy, ProgressiveCharcot-Marie-Tooth DiseaseMice, TransgenicMagnetic Resonance ImagingSpinal StenosisNeural ConductionMuscular DiseasesPhenotypeSpinal FusionContractureNerve DegenerationHeterozygote DetectionAxonsOlivopontocerebellar AtrophiesMutationNeuromuscular Junction DiseasesVocal Cord ParalysisGlycine-tRNA LigaseNeuromuscular JunctionArthrogryposisAmyotrophic Lateral SclerosisGene DeletionHomozygoteRespiratory ParalysisSpinal InjuriesGyrate AtrophySural NerveTrinucleotide Repeat ExpansionGenes, RecessiveMuscle StrengthRNA SplicingSpinal Cord IschemiaPostpoliomyelitis SyndromeGenetic LinkageMyelographyMuscular DystrophiesGenes, DominantGanglia, SpinalMusclesMotor ActivityParaplegiaGeographic AtrophyGene DosageTrinucleotide RepeatsInclusion BodiesThoracic VertebraeOphthalmoplegiaBrainHereditary Sensory and Motor NeuropathyLaminectomyFasciculationIntranuclear Inclusion BodiesUlnar NerveSpineMuscle Fibers, SkeletalCervical VertebraeTime Factors
Infantile spinalTypes of spinal musculaChildren with spinal musculaCordSymptomsSevereAmyotrophic lateral sScoliosisChild Has Spinal MusculaPrimary lateral sMusclesInfantsAffectsLeading to muscle weaknessDuchenneCharacterized by muscle weaknessAutosomal recessiveNervesDiseasesMotor neuronsDisordersDystrophiesGeneDystrophy AssociationKennedy'sZolgensmaAdulthoodBulbarCause weaknessNeuromuscular conditionsGenesOnsetLeads to muscle weaknessWorsensLead to muscle weaknessContracturesAbnormalNeurologicalNeurodegenerative conditionCongenital myopathiesDegenerationDegenerativeParalysisClinicalRespiratory distressCystic fibrosisHypotoniaRare geneticDisorderMajority of spinalType 1 SMAReflexesProgressive
Infantile spinal5
Types of spinal muscula5
Children with spinal muscula3
  • Most children with spinal muscular atrophy type I do not survive past early childhood due to respiratory failure. (medlineplus.gov)
  • Genentech presented Evrysdi's data in previously-treated children with spinal muscular atrophy. (ipharmacenter.com)
  • The board-certified and fellowship-trained neurologists with Norton Children's Neuroscience Institute, affiliated with the UofL School of Medicine, are the leading providers of care for children with spinal muscular atrophy (SMA) disease in Louisville, Kentucky, and Southern Indiana. (nortonchildrens.com)
Cord34
Symptoms19
  • In general, the earlier your child develops symptoms, the more severe their condition will be. (healthline.com)
  • What Are the Signs & Symptoms of Spinal Muscular Atrophy? (kidshealth.org)
  • This simple blood test, done shortly after birth, looks for different health conditions in newborns who have no symptoms and appear healthy. (kidshealth.org)
  • Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after age 18 months. (medscape.com)
  • People with a higher number of CAG repeats tend to develop signs and symptoms of spinal and bulbar muscular atrophy at an earlier age. (medlineplus.gov)
  • It is possible that existing auto-inflammatory drugs could help to inhibit the anti-viral response now known to cause the symptoms of MND and other neurodegenerative conditions. (pharmaceutical-technology.com)
  • This condition can cause various symptoms such as muscle weakness, loss of coordination, and cramping. (gshs.org)
  • Motor neuropathy is a disorder that occurs when these motor nerves become damaged, which can lead to muscle weakness and various other symptoms. (gshs.org)
  • It is essential for individuals experiencing symptoms of motor neuropathy to consult with a healthcare professional for appropriate evaluation and management of their condition. (gshs.org)
  • Spinal fusion is one of the most widely used surgical proceduress to treat or relieve symptoms of spinal problems. (angitiabio.com)
  • Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes. (angitiabio.com)
  • Whichever area the disease starts, as the disease progresses the pattern of signs and symptoms becomes similar, with increasing muscle weakness in the person's arms and legs, problems swallowing and communicating and weakness of the muscles used for breathing, which ultimately leads to death. (nih.gov)
  • It covers monitoring of disease progression, management of symptoms (in particular muscle weakness, excess secretions, breathing and nutrition problems), ongoing support and services, mobility, emotional and psychological changes, and preparation for end of life. (nih.gov)
  • Symptoms can include difficulty breathing, lethargy, and weakness. (msudev.com)
  • Have symptoms (muscle weakness, breathing problems, heart failure, etc.) that progress throughout childhood and adult life. (iowa.gov)
  • When a patient presents with nonspecific neurologic findings involving the extremities, with such symptoms as progressive weakness, abnormal fatigue, or muscle cramps, and clinical signs consistent with upper and lower motor neuron dysfunction, ALS should be considered in the differential diagnosis. (medscape.com)
  • Clinical features of PPS include fatigue, joint and muscle pain, new muscular weakness and bulbar symptoms. (bvsalud.org)
  • This study reports the case of a patient that presented the symptoms of both conditions in the stomatognathic system, and discusses how to achieve the differential diagnosis for proper management of the cases. (bvsalud.org)
  • 15 . A complete understanding of the associated medical conditions with symptoms common to TMD and orofacial pain is necessary for a proper diagnosis 13 . (bvsalud.org)
Severe20
  • The weakness tends to be more severe in the muscles that are close to the center of the body (proximal) compared to muscles away from the body's center (distal). (medlineplus.gov)
  • Spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition. (medlineplus.gov)
  • It is a severe form of the disorder with muscle weakness evident at birth or within the first few months of life. (medlineplus.gov)
  • Due to their underlying conditions, these patients may be at higher risk of severe illness or death from COVID-19. (alliedacademies.org)
  • Spinal muscular atrophy (SMA) is a severe neurodegenerative condition resulting from recessive mutations in the SMN1 gene and insufficient survival motor neuron (SMN) protein production. (bmj.com)
  • SMA is caused by mutations in the SMN gene, leading to muscle weakness and, in severe cases, paralysis and even death. (udayavani.com)
  • the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. (beds.ac.uk)
  • Muscle weakness is most profound in type 0 and type 1 (Werdnig-Hoffmann disease), the most severe forms of SMA. (mysmateam.com)
  • Severe muscle weakness impacts their breathing ability and in turn, their life expectancy. (mysmateam.com)
  • X-linked spinal muscular atrophy-2 (SMAX2) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death (summary by Ramser et al. (nih.gov)
  • The person diagnosed with this condition may experience severe to moderate muscle weakness and hypotonia. (naturemia.com)
  • This is the most severe type of spinal muscular atrophy. (naturemia.com)
  • Dr. Moutvic has presented across the United States, most recently presenting on the topics of Shoulder Pain and Weakness, Severe Copper Deficiency, Functional Movement Disorders, and Rehabilitation for Multiple Sclerosis and ALS. (mayoclinic.org)
  • Children with more severe forms typically start to show weakness when they are babies. (nortonchildrens.com)
  • the most severe type that usually does not allow children to live beyond the age of two (as their muscle weakness eventually affects the important muscles needed for breathing). (zahratrust.com)
  • SMA is an inherited, degenerative neuromuscular disease that can result in severe muscle weakness and loss of function over time. (childneurologysociety.org)
  • Spinal muscular atrophy type 0, the most severe form, begins to affect the fetus before birth. (msdmanuals.com)
  • Once born, the baby has severe weakness and lacks muscle tone. (msdmanuals.com)
  • Doses of less than 0.4 mg may be sufficient in less severe conditions while severe and life-threatening diseases may require up to 20 mg or more a day. (who.int)
  • The onset of spinal poliomyelitis is associated with myalgia and severe muscle spasms, with the subsequent development of an asymmetrical, predominantly lower limb, flaccid weakness that becomes maximal after 48 h 2 . (bvsalud.org)
Amyotrophic lateral s2
Scoliosis2
  • Unlike 50 years ago, when intermediate SMA was considered a life-limiting condition, developments in medical and lay knowledge about treating scoliosis (spinal curvature), chest clearance to remove obstructions from the lungs during a chest infection and physiotherapy have meant that individuals are often (although not always) able to live full and satisfying lives. (progress.org.uk)
  • August is Spinal Muscular Atrophy Awareness Month , so we are presenting to you a selection of our articles on spinal muscular atrophy and related topics, like muscular dystrophy, obstructive sleep apnea, scoliosis, and back pain. (belmarrahealth.com)
Child Has Spinal Muscula1
  • My Child Has Spinal Muscular Atrophy: What Will Their Life Be Like? (healthline.com)
Primary lateral s2
Muscles19
Infants6
  • Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital). (medlineplus.gov)
  • We hope to build on recent successes of gene therapy in other diseases, including a breakthrough success in the treatment of congenital weakness in infants (spinal muscular atrophy) and blindness (Leber Hereditary Optic Neuropathy, a form of retinitis pigmentosa)," Tuszynski said. (universityofcalifornia.edu)
  • Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. (bvsalud.org)
  • In addition, the instruments available for assessing motor function have limitations when applied to infants with neuromuscular diseases and significant muscle weakness. (bvsalud.org)
  • Roche announced that Evrysdi (risdiplam) improved survival and motor milestones in infants with type 1 spinal muscular atrophy (SMA). (ipharmacenter.com)
  • Novartis presented the data of Zolgensma (onasemnogene abeparvovec) in presymptomatic and symptomatic infants with spinal muscular atrophy (SMA). (ipharmacenter.com)
Affects11
  • Spinal muscular atrophy affects 1 per 8,000 to 10,000 people worldwide. (medlineplus.gov)
  • Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. (medlineplus.gov)
  • This condition affects fewer than 1 in 150,000 males and is very rare in females. (medlineplus.gov)
  • Spinal muscular atrophy is a condition that affects the nervous system and caused generalised muscle weakness. (progress.org.uk)
  • The degree of weakness , which parts of the body it affects, and how it impacts physical function and quality of life depend on the type of SMA a person has and age of onset. (mysmateam.com)
  • Spinal muscular atrophy (SMA) is a genetic disorder that affects the nerves that control muscle movement. (petfaq.net)
  • This is an inherited condition that primarily affects the lungs and digestive system. (ultrasoundcare.com.au)
  • This genetic condition affects around 70 children annually in the UK, leading to muscle weakness, progressive loss of movement, and paralysis. (ipharmacenter.com)
  • Hip Dysplasia: Maine Coon cats can be predisposed to hip dysplasia, a condition that affects the hip joint and can cause pain and mobility issues. (msudev.com)
  • Polycystic Kidney Disease: This is an inherited condition that affects the kidneys and can lead to kidney failure. (msudev.com)
  • Duchenne muscular dystrophy (or DMD) is the most common muscular dystrophy in children, and it mostly affects boys in early childhood. (medlineplus.gov)
Leading to muscle weakness1
Duchenne4
  • The most common type of MD is Duchenne muscular dystrophy. (uwhealth.org)
  • UW Health's American Family Children's Hospital is one of only a small number of centers in the country named a Certified Duchenne Care Center by Parent Project Muscular Dystrophy. (uwhealth.org)
  • Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
  • 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)
Characterized by muscle weakness2
Autosomal recessive2
  • For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. (wisdompanel.com)
  • This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. (wisdompanel.com)
Nerves1
  • This condition occurs when the immune system mistakenly attacks multiple motor nerves. (gshs.org)
Diseases6
  • Muscular dystrophy (MD) refers to a large group of diseases that cause muscle weakness and loss. (uwhealth.org)
  • Tuszynski said gene therapy, which debuted in 1980 and has been tested on multiple diseases and conditions, represents a different approach to a disease that requires new ways of thinking about the disease and new attempts at treatments. (universityofcalifornia.edu)
  • One emerging innovative approach for neurodegenerative diseases has been gene therapy - for example, Novartis' Zolygensma was approved last month for spinal muscular atrophy (SMA), which is similar to MND - suggesting that these disorders have a genetic basis. (pharmaceutical-technology.com)
  • Muscular dystrophy is a group of diseases that cause progressive muscle weakness and loss of muscle mass. (belmarrahealth.com)
  • In motor neuron diseases, nerve cells called motor neurons progressively lose function and cause weakness. (chihealth.com)
  • Muscular dystrophies are a group of inherited diseases that cause muscle wasting and weakness. (medlineplus.gov)
Motor neurons4
Disorders7
  • Congenital Muscular Dystrophies are a group of inherited neuromuscular disorders. (wisdompanel.com)
  • Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al. (beds.ac.uk)
  • In some cases, motor neuropathy may be caused by other underlying conditions, such as diabetes, infections, or genetic disorders. (gshs.org)
  • Under the bureau of Chronic, Congenital and Inherited Disorders, the public health genetics and genomics programs at Iowa HHS provides oversight for several different programs relating to inherited conditions. (iowa.gov)
  • The symposium investigated how to differentiate pediatric neurological disorders that may resemble other conditions, with specific examples such as cerebral palsy, epilepsy, and select neurotransmitter disorders, including aromatic L-amino acid decarboxylase (AADC) deficiency. (childneurologysociety.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)
  • Orofacial pain and TMD can be associated with pathologic conditions or with disorders related to somatic and neurologic structures, such as primary headache disorders and rarely have a solitary cause and numerous factors have been implicated 15 . (bvsalud.org)
Dystrophies2
Gene19
  • The number of copies of the SMN2 gene modifies the severity of the condition and helps determine which type develops. (medlineplus.gov)
  • When they think a child might have spinal muscular atrophy, doctors will order genetic testing to look for mutations in the SMN1 gene. (kidshealth.org)
  • A problem with a specific gene causes spinal muscular atrophy (SMA). (uwhealth.org)
  • Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. (medlineplus.gov)
  • The AR gene mutation that causes spinal and bulbar muscular atrophy is the abnormal expansion of a DNA segment called a CAG triplet repeat . (medlineplus.gov)
  • A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (medlineplus.gov)
  • A few females with mutations in both copies of the gene have had mild features related to the condition, including muscle cramps and occasional tremors. (medlineplus.gov)
  • The gene therapy, one of the world's most expensive drugs, offers promising results but experts caution that it is not a definitive solution for the rare nerve condition that leads to muscle wasting and weakness. (udayavani.com)
  • Researchers at University of California San Diego School of Medicine have launched a first-in-human Phase I clinical trial to assess the safety and efficacy of a gene therapy to deliver a key protein into the brains of persons with Alzheimer's disease (AD) or Mild Cognitive Impairment (MCI), a condition that often precedes full-blown dementia. (universityofcalifornia.edu)
  • In most cases, a child can only be born with SMA if both of their parents have a faulty gene than causes the condition. (wales.nhs.uk)
  • A mutation on the SMN1 gene is responsible for SMA types 0-4, which accounts for nearly all cases of the condition. (mysmateam.com)
  • Gene(s) directly associated with this condition or phenotype. (nih.gov)
  • It has been found out that, one out of every forty people have the gene that can be the cause of spinal muscular atrophy. (naturemia.com)
  • If a child has two gene carriers, then there is a 25 percent possibility of them being diagnosed with spinal muscular atrophy from their birth. (naturemia.com)
  • Around 75 million people living in the country are assumed to be the gene carriers of the spinal muscular atrophy and over 25 thousand citizens are estimated to be suffering from this illness. (naturemia.com)
  • Reproductive genetic carrier screening identifies the gene faults associated with health conditions. (ultrasoundcare.com.au)
  • Many people are carriers of gene faults, even though no one in their family has a genetic condition. (ultrasoundcare.com.au)
  • Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known. (bvsalud.org)
  • At least four mutations in the ASAH1 gene have been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). (encyclopedia.pub)
Dystrophy Association2
  • Our multidisciplinary team, in partnership with the Muscular Dystrophy Association (MDA), sees patients in a single clinic for multiple specialties, including neurology, pulmonology, orthopedics, physical therapy, occupational therapy and speech therapy. (nortonchildrens.com)
  • Fortunately, local ALS Association chapters and Muscular Dystrophy Association clinics , as well as the National ALS Registry , can provide some assistance. (medscape.com)
Kennedy's1
Zolgensma1
  • That's the cost of one Zolgensma injection used for children under two suffering from spinal muscular atrophy (SMA), the disease and its treatment once again in the headlines over a 15-month-old boy in Karnataka staring at an uncertain tomorrow. (udayavani.com)
Adulthood2
Bulbar2
  • In people with spinal and bulbar muscular atrophy, the CAG segment is repeated at least 38 times, and it may be two or three times its usual length. (medlineplus.gov)
  • Katsuno M, Banno H, Suzuki K, Adachi H, Tanaka F, Sobue G. Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA). (medlineplus.gov)
Cause weakness2
  • SMA can affect one's ability to walk, sit up and cause weakness in the upper body. (kindersinsurance.com)
  • They can all cause weakness and difficulty moving, but how bad these problems are varies. (wales.nhs.uk)
Neuromuscular conditions2
  • They are no longer so encumbered by the medical complications that can accompany such neuromuscular conditions, the most concerning of which remains susceptibility to chest infections such as pneumonia. (progress.org.uk)
  • Many neuromuscular conditions increase the risk for malignant hyperthermia with anesthesia use, and anticipated surgery should increase the urgency of a diagnostic evaluation. (medscape.com)
Genes1
  • If you are a carrier of CF or SMA you have a change in one of your genes associated with these two conditions. (ultrasoundcare.com.au)
Onset6
  • In SMA0, prenatal onset of weakness and poor intrauterine movement results in congenital contractures. (wikipedia.org)
  • The weakness of XL-SMA is often prenatal in onset, manifests as polyhydramnios and poor movement in utero that results in congenital contractures. (wikipedia.org)
  • Myofibrillar myopathy-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. (beds.ac.uk)
  • The onset of this type of spinal muscular atrophy is seen mostly in adults. (naturemia.com)
  • The median survival is 3 years from clinical onset of weakness. (medscape.com)
  • The early detection of correctable and treatable causes of late-onset weakness and pain may help to reduce the functional declines of polio survivors 10 . (bvsalud.org)
Leads to muscle weakness1
Worsens4
Lead to muscle weakness1
Contractures2
  • The condition is chronic and progressive, leading to muscle fibrosis and atrophy as well as potential joint contractures, limb and spinal deformities, mobility difficulties, and exercise intolerance. (wisdompanel.com)
  • The Bethlem myopathy is an autosomal dominant or recessive disorder characterized by proximal and axial progressive muscle weakness, with flexion finger contractures (TAGLIAVINI et al. (bvsalud.org)
Abnormal2
  • Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. (bvsalud.org)
  • Ceramides influence various cell functions, and it is likely that abnormal regulation of these processes also contributes to the features of this condition. (encyclopedia.pub)
Neurological1
  • The nature of the condition remains controversial and diagnosis is essentially clinical after excluding other neurological, orthopedic or rheumatologic problems. (bvsalud.org)
Neurodegenerative condition1
Congenital myopathies2
  • Congenital myopathies refer to muscle conditions that are present at birth or appear early in life. (uwhealth.org)
  • Conditions in which CK is mildly elevated or normal include spinal muscular atrophy, neuropathies, and congenital myopathies. (medscape.com)
Degeneration2
Degenerative2
  • Degenerative disc disease is an age-related condition that happens when one or more of the discs between the vertebrae of the spinal column deteriorates or breaks down, leading to pain. (angitiabio.com)
  • The goal of degenerative disc disease treatment is to ease pain and stop further damage, as spinal discs 'don't repair themselves. (angitiabio.com)
Paralysis2
Clinical3
  • Clinical signs associated with Congenital Muscular Dystrophy, identified in the Italian Greyhound, will be present by a few months of age in affected dogs. (wisdompanel.com)
  • Cardiomyopathy (heart disease) is often a clinical sign in humans affected with the disorder, but it is not yet known if this is experienced by dogs with the condition. (wisdompanel.com)
  • During clinical evaluation, the patient reports weakness but no pain, numbness, or tingling in his extremities. (medscape.com)
Respiratory distress2
Cystic fibrosis2
  • In some instances excessive secretions can build up in the lungs, such as following a general anaesthetic, when on a ventilator or in specific conditions such as cystic fibrosis. (gosh.nhs.uk)
  • There are tests available before pregnancy or in early pregnancy that screen for the common genetic conditions, such as Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA) and Fragile X syndrome, through to more extensive panels that screen for hundreds of conditions. (ultrasoundcare.com.au)
Hypotonia1
  • Muscle weakness, also referred to as hypotonia or lack of muscle tone, is the primary symptom of all types of SMA. (mysmateam.com)
Rare genetic2
Disorder4
  • There are different forms of motor neuropathy, one of which is multifocal motor neuropathy (MMN), a progressive muscle disorder characterized by weakness in the hands and varying muscle involvement on different sides of the body source . (gshs.org)
  • MMN is a rare disorder characterized by slowly progressive muscle weakness , primarily in the arms and legs. (gshs.org)
  • BACKGROUND: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. (bvsalud.org)
  • Consequently, people with this disorder usually live longer than those with type 1 or 2 spinal muscular atrophy. (msdmanuals.com)
Majority of spinal1
Type 1 SMA1
  • Babies born with Type 1 SMA, which is the most common form of the condition, experience progressive muscle weakness, loss of movement, difficulty breathing. (stv.tv)
Reflexes2
  • Signs can include poor body condition with generalized muscle atrophy, muscular weakness, decreased reflexes, a stiff and short-strided gait, decreased appetite and regurgitation. (wisdompanel.com)
  • In some types of SMA, muscle weakness comes with hyporeflexia (lack of, or severely reduced, muscle reflexes). (mysmateam.com)
Progressive5
  • Moreover, the weakness of XL-SMA is progressive. (wikipedia.org)
  • 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)
  • Many of these conditions are chronic and progressive, requiring ongoing medical care and monitoring [ 1 ]. (alliedacademies.org)
  • The long-term prognosis for CMD is poor as the condition is progressive and treatment is limited to supportive care. (wisdompanel.com)
  • [ 5 ] Significant morbidity occurs from progressive weakness, and patients may frequently fall or may have difficulty with stairs. (medscape.com)