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GTR Home > Conditions/Phenotypes > Myopathy, distal, 6, adult-onset, autosomal dominant

Myopathy, distal, 6, adult-onset, autosomal dominant

Summary

Autosomal dominant adult-onset distal myopathy-6 (MPD6) is a muscle disorder characterized by slowly progressive distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles (summary by Savarese et al., 2019) [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1AA, CMH23, CMYO8, CMYP8, MPD6, MYOCOZ, ACTN2
    Summary: actinin alpha 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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