loading...| Preferred Name |
facioscapulohumeral muscular dystrophy |
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| Synonyms |
Dystrophy, Landouzy-Dejerine Dystrophies, Facioscapulohumeral Muscular Landouzy-Déjérine muscular dystrophy Fascioscapulohumeral muscular dystrophy Facioscapulohumeral Atrophies FSH - Facioscapulohumeral muscular dystrophy FSHD - Facioscapulohumeral muscular dystrophy Landouzy-Dejerine Dystrophies FMD - Facioscapulohumeral muscular dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Landouzy Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (disorder) Facioscapulohumeral Atrophy |
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| Definitions |
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420) |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000491 |
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| comment |
An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420) |
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| alternative term |
Dystrophy, Landouzy-Dejerine Dystrophies, Facioscapulohumeral Muscular Landouzy-Déjérine muscular dystrophy Fascioscapulohumeral muscular dystrophy Facioscapulohumeral Atrophies FSH - Facioscapulohumeral muscular dystrophy FSHD - Facioscapulohumeral muscular dystrophy Landouzy-Dejerine Dystrophies FMD - Facioscapulohumeral muscular dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Landouzy Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (disorder) Facioscapulohumeral Atrophy |
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| definition source |
MSH:D020391 SNOMEDCT:399091004 DOID:11727 GeneRIF:15551024 GeneRIF:12874395 GeneRIF:15520407 |
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| label |
facioscapulohumeral muscular dystrophy |
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| prefixIRI |
efo:EFO_0000491 |
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| prefLabel |
facioscapulohumeral muscular dystrophy |
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| see also |
URI: http://www.ebi.ac.uk/cellline#facioscapulohumeral_muscular_dystrophy |
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| term editor |
James Malone |
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| subClassOf |
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