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GTR Home > Conditions/Phenotypes > Welander distal myopathy

Welander distal myopathy

Synonyms
Distal myopathy, Swedish type; Gower's muscular dystrophy; MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT; Welander distal myopathy, Swedish type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Welander distal myopathy (WDM) is an autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. This disorder is common in Sweden and Finland (summary by Hackman et al., 2013). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS26, TIA-1, WDM, TIA1
    Summary: TIA1 cytotoxic granule associated RNA binding protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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