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distal myopathy, Tateyama type

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.
Uniprot Description A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet.
Mondo Term and Equivalent IDs
MONDO:0013686:  distal myopathy, Tateyama type
DOID:0111191: 
Orphanet:488650: 
SCTID:711265009: 
UMLS:C3280443: