Distal myopathy, Tateyama type

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Distal myopathy, Tateyama type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Distal myopathy, Tateyama type?

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Clinical Trials

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