Myopathy, Distal, with Anterior Tibial Onset malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases
Aliases & Descriptions for Myopathy, Distal, with Anterior Tibial Onset:
Orphanet epidemiological data:53
distal myopathy with anterior tibial onset:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:69 Distal myopathy with anterior tibial onset: Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive.
MalaCards based summary: Myopathy, Distal, with Anterior Tibial Onset, also known as distal myopathy with anterior tibial onset, is related to myopathy and muscular dystrophy, and has symptoms including distal muscle weakness, elevated serum creatine phosphokinase and distal amyotrophy. An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (Dysferlin).
Description from OMIM:51 606768
Diseases related to Myopathy, Distal, with Anterior Tibial Onset via text searches within MalaCards or GeneCards Suite gene sharing:
Genetic tests related to Myopathy, Distal, with Anterior Tibial Onset:
Search GEO for disease gene expression data for Myopathy, Distal, with Anterior Tibial Onset.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet