Distal myopathy, Tateyama type

Orpha code: 488650OMIM code: 614321

Definicja

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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
488650
Kod OMIM
614321
Kod ICD10
G71.0
Kod ICD11
-

No additional description.

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