" /> Welander distal myopathy - CISMeF





Preferred Label : Welander distal myopathy;

Symbol : WDM;

CISMeF acronym : WDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, distal, late-onset, autosomal dominant; Myopathy, distal, swedish;

Description : Welander distal myopathy 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).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the TIA1 cytotoxic granule-associated RNA-binding protein gene (TIA1, 603518.0001);

Laboratory abnormalities : Mildly increased serum creatine kinase;

Prefixed ID : #604454;

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27/07/2025


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