Spinal muscular atrophy, facioscapulohumeral type

Preferred Label : Spinal muscular atrophy, facioscapulohumeral type;

CISMeF acronym : FSHSMA;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : FSHSMA;

Description : Fenichel et al. (1967) described a family in which weakness was confined mainly to the face and pectoral girdle musculature. Onset was in early adult life and the disorder was slowly progressive. The disorder superficially resembles facioscapulohumeral muscular dystrophy, from which it is differentiated by muscle histology and electromyography. Siddique et al. (1989) could prove no linkage with 10 expressed and 7;

Inheritance : Autosomal dominant form;

Prefixed ID : %182970;

Details

Origin ID

182970;

UMLS CUI

C1866783;

Automatic exact mappings (from CISMeF team)
- Facioscapulohumeral form of spinal muscular atrophy [ICD-11 More detail]
Currated CISMeF NLP mapping
- spinal muscular atrophy, facioscapulohumeral type [MeSH concept]
- spinal muscular atrophy, facioscapulohumeral type [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spinal muscular atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spinal muscular atrophy, facioscapulohumeral type [MeSH Supplementary Concept]
- spinal muscular atrophy, facioscapulohumeral type [MeSH concept]

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