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SMA
MCID: SPN046
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Spinal Muscular Atrophy malady |
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124 genes, 8 tissues, 288 related diseases, 16 phenotypes, 351 articles, clinical trials, genetic tests.
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 23MedlinePlus, 15GeneReviews, 17Genetics Home Reference, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
NINDS: Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting
of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing
gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor
neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III)
is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset
SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the
arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins
6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able
to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of
age and include difficulty running, climbing steps, or rising from a chair. 31
MalaCards: Spinal Muscular Atrophy, also known as progressive muscular atrophy, is related to proximal spinal muscular atrophy and juvenile spinal muscular atrophy. An important gene associated with Spinal Muscular Atrophy is SMN1 (survival of motor neuron 1, telomeric), and among its related pathways are mRNA Processing and mRNA Decay by 5 to 3 Exoribonuclease. The compounds nsc34 and h2o2 have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are respiratory system and adipose tissue. Disease Ontology: A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration.6 NIH Rare Diseases: Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases, the muscles used for breathing and swallowing are affected. Spinal muscular atrophy is divided into subtypes based on the severity of the disease and the age when symptoms first appear. It is usually inherited as an autosomal recessive trait.30 MedlinePlus: Spinal muscular atrophy (sma) is a genetic disease that attacks nerve cells, called motor neurons, in your spinal cord. these neurons communicate with your voluntary muscles - the ones you can control, like in your arms and legs. as you lose the neurons, your muscles weaken. this can affect walking, crawling, breathing, swallowing and head and neck control. sma runs in families. parents usually have no symptoms, but still carry the gene. genetic counseling is important if the disease runs in your family. there are many types of sma, and some of them are fatal. life expectancy depends on the type you have and how it affects your breathing. there is no cure. medicines and physical therapy help treat symptoms. nih: national institute of neurological disorders and stroke23 Genetics Home Reference: Spinal muscular atrophy is a disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. Spinal muscular atrophy is divided into subtypes based on the severity of the disease and the age when symptoms appear.17 Wikipedia: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a genetic defect in the SMN1...44 more... GeneReviews summary for sma |
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Sources: 44Wikipedia, 17Genetics Home Reference, 43UMLS, 6Disease Ontology, 7diseasecard, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 31NINDS, 8DISEASES, 23MedlinePlus, 32Novoseek , 40SNOMED-CT, 19ICD9CM, 24MeSH, 27NCIt See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 21LifeMap Discovery™, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for spinal muscular atrophy Drug clinical trials:Search ClinicalTrials for spinal muscular atrophy Search NIH Clinical Center for spinal muscular atrophy Search CenterWatch for spinal muscular atrophy Cell-based therapeutics: The database of embryonic development, stem cell research and regenerative medicine Stem-Cell-Based therapeutic approaches for spinal muscular atrophy:
Embryonic/Adult Cultured Cells Related to spinal muscular atrophy:
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Sources: 21LifeMap Discovery™, 22MalaCards See all sources |
MalaCards organs/tissues related to spinal muscular atrophy:22Brain, Spinal cord, Heart, Skeletal muscle, T cells, B cells The database of embryonic development, stem cell research and regenerative medicine Embryonic and adult cells/anatomical compartments related to spinal muscular atrophy:
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Spinal Cord -> Motor Neural Progenitor Domain -> |
Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to spinal muscular atrophy:25 (show all 16)
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Sources: 35PubMed See all sources |
Articles related to spinal muscular atrophy:(show top 50) (show all 351)
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 20KEGG, 3Cell Signaling Technology, 41Thomson Reuters, 10EMD Millipore, 36QIAGEN, 37R&D Systems See all sources |
Pathways related to spinal muscular atrophy according to GeneDecks:(show all 17)
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Sources: 32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB, 34PharmGKB See all sources |
Compounds related to spinal muscular atrophy according to GeneDecks:(show top 50) (show all 96)
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Sources: 12Gene Ontology See all sources |
Cellular components related to spinal muscular atrophy according to GeneDecks:(show all 12)
Biological processes related to spinal muscular atrophy according to GeneDecks:(show all 24)
Molecular functions related to spinal muscular atrophy according to GeneDecks:
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