Welander distal myopathy

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;

Détails

Origin ID

604454;

UMLS CUI

C0221054;

Automatic exact mappings (from CISMeF team)
- Distal myopathy Welander type (disorder) [SNOMED CT concept]
- Distal myopathy, Welander type [ORDO Disease]
- TIA1 wt Allele [NCIt concept]
- Welander distal myopathy [ICD-11 More detail]
- Welander distal myopathy [MedDRA Preferred Term]
- distal myopathies [MeSH Descriptor]
- welander distal myopathy, swedish type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- welander distal myopathy [MeSH concept]
Genes related to phenotype
- Tia1 cytotoxic granule-associated rna-binding protein [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Rimmed vacuoles [HPO term]
- Slowly progressive [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Distal myopathy, Welander type [ORDO Disease]
See also inter- (CISMeF)
- Laing Distal Myopathy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Laing Distal Myopathy [Disease (Nov.)]
- Welander distal myopathy [MedDRA Preferred Term]
- gower's muscular dystrophy [SNOMED Notion]
- welander distal myopathy [MeSH concept]

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