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GTR Home > Conditions/Phenotypes > Progressive scapulohumeroperoneal distal myopathy

Progressive scapulohumeroperoneal distal myopathy

Synonyms
Myopathy, scapulohumeroperoneal
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015). [from OMIM]

Available tests

13 tests are in the database for this condition.

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Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACTA, ASMA, CFTD, CFTD1, CFTDM, CMYO2A, CMYO2B, CMYO2C, CMYP2A, CMYP2B, CMYP2C, MPFD, NEM1, NEM2, NEM3, SHPM, ACTA1
    Summary: actin alpha 1, skeletal muscle

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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