Welander Distal Myopathy malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases
Aliases & Descriptions for Welander Distal Myopathy:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Sweden); Age of onset: Adult; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
Rare neurological diseases
OMIM:50 Welander distal myopathy is an autosomal dominant disorder characterized by adult onset of distal muscle weakness... (604454) more...
MalaCards based summary: Welander Distal Myopathy, also known as wdm, is related to welander distal myopathy, swedish type and liang distal myopathy, and has symptoms including myopathy, distal muscle weakness and steppage gait. An important gene associated with Welander Distal Myopathy is TIA1 (TIA1 Cytotoxic Granule Associated RNA Binding Protein). Affiliated tissues include skeletal muscle.
UniProtKB/Swiss-Prot:68 Welander distal myopathy: 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.
Diseases related to Welander Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Welander Distal Myopathy:
HPO human phenotypes related to Welander Distal Myopathy:(show all 6)
UMLS symptoms related to Welander Distal Myopathy:myalgia, gait, drop foot
Drugs for Welander Distal Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Welander Distal Myopathy
MalaCards organs/tissues related to Welander Distal Myopathy:34
Articles related to Welander Distal Myopathy:
Search GEO for disease gene expression data for Welander Distal Myopathy.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet