Miyoshi Muscular Dystrophy 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
Aliases & Descriptions for Miyoshi Muscular Dystrophy 1:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
Rare neurological diseases
OMIM:50 Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood... (254130) more...
MalaCards based summary: Miyoshi Muscular Dystrophy 1, also known as miyoshi myopathy, is related to myopathy, distal, with anterior tibial onset and muscular dystrophy, limb-girdle, type 2b, and has symptoms including grip strength decreased, grip strength decreased and weakness of lower limb. An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin). Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.
Genetics Home Reference:24 Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.
NIH Rare Diseases:46 Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs. the first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. over a period of years, the weakness and atrophy typically spread to the thighs and gluteal muscles. the forearms may become mildly atrophic with decrease in grip strength. it is caused by mutations in the dysf gene and is inherited in an autosomal recessive manner. management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support. last updated: 4/5/2011
UniProtKB/Swiss-Prot:68 Miyoshi muscular dystrophy 1: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood.
HPO human phenotypes related to Miyoshi Muscular Dystrophy 1:(show all 10)
UMLS symptoms related to Miyoshi Muscular Dystrophy 1:grip strength decreased, weakness of lower limb
Drugs for Miyoshi Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Miyoshi Muscular Dystrophy 1
MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:34
UniProtKB/Swiss-Prot genetic disease variations for Miyoshi Muscular Dystrophy 1:68 (show all 32)
Clinvar genetic disease variations for Miyoshi Muscular Dystrophy 1:5 (show all 19)
Search GEO for disease gene expression data for Miyoshi Muscular Dystrophy 1.
Cellular components related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
Biological processes related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
Molecular functions related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet