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;
Origin ID : 604454;
UMLS CUI : C0221054;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)