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progressive scapulohumeroperoneal distal myopathy

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable.
Mondo Term and Equivalent IDs
MONDO:0014800:  progressive scapulohumeroperoneal distal myopathy
Orphanet:447977: 
UMLS:C4225181: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found