loading...| Preferred Name |
spinal muscular atrophy |
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| Synonyms |
spinal muscular atrophy |
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| Definitions |
Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy. Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0008525 |
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| database_cross_reference |
ICD10:G12.9 MeSH:D009134 UMLS:C0026847 MedDRA:10041583 MedDRA:10041582 MedDRA:10080264 SNOMEDCT:5262007 NCIt:C85075 ICD9:335.1 ICD9:335.19 DOID:12377 MONDO:0001516 MESH:D009134 ICD9:335.10 NCIT:C85075 SCTID:5262007 |
|
| definition |
Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy. Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. |
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| definition_citation | ||
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0026847 http://purl.obolibrary.org/obo/DOID_12377 http://identifiers.org/snomedct/5262007 |
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| has_exact_synonym |
spinal muscular atrophy |
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| id |
EFO:0008525 |
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| in_subset | ||
| label |
spinal muscular atrophy |
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| notation |
EFO:0008525 |
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| prefLabel |
spinal muscular atrophy |
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| see also |
https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy |
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| term editor |
Laura Huerta |
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| excluded_subClassOf | ||
| subClassOf |