Myopathy, Distal, 4 malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases
Aliases & Descriptions for Myopathy, Distal, 4:
Orphanet epidemiological data:52
distal myopathy with posterior leg and anterior hand involvement:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
OMIM:50 Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle... (614065) more...
MalaCards based summary: Myopathy, Distal, 4, is also known as williams distal myopathy, and has symptoms including calf muscle weakness, calf muscle weakness and hyporeflexia. An important gene associated with Myopathy, Distal, 4 is FLNC (Filamin C).
UniProtKB/Swiss-Prot:68 Myopathy, distal, 4: A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non- specific changes with no evidence of rods, necrosis, or inflammation.
Diseases in the Myopathy, Distal, 4 family:
HPO human phenotypes related to Myopathy, Distal, 4:(show all 7)
UMLS symptoms related to Myopathy, Distal, 4:calf muscle weakness
Drugs for Myopathy, Distal, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:(show all 12)
Search NIH Clinical Center for Myopathy, Distal, 4
UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Distal, 4:68
Clinvar genetic disease variations for Myopathy, Distal, 4:5
Search GEO for disease gene expression data for Myopathy, Distal, 4.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet