Distal myopathy, Tateyama type

Orpha code: 488650OMIM code: 614321

Definition

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
Classification

Disease

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

No additional description.

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