Brody Myopathy malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Brody Myopathy:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
Rare neurological diseases
NIH Rare Diseases:47 Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term Brody disease for individuals with an identified mutation versus Brody syndrome for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder. Last updated: 7/29/2016
MalaCards based summary: Brody Myopathy, also known as brody disease, is related to angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps and acanthosis nigricans with muscle cramps and acral enlargement, and has symptoms including muscle cramps An important gene associated with Brody Myopathy is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1), and among its related pathways are Translational Control and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include skeletal muscles, skeletal muscle and spinal cord, and related mouse phenotypes are muscle and respiratory system.
Disease Ontology:11 A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.
Genetics Home Reference:25 Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. They are usually painless, but in some cases can cause mild discomfort. The muscles usually relax after a few minutes of rest. Most commonly affected are the muscles of the arms, legs, and face (particularly the eyelids).
UniProtKB/Swiss-Prot:69 Brody myopathy: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.
Wikipedia:70 Brody myopathy is a genetic disease. more...
Description from OMIM:51 601003
Drugs for Brody Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 587)
Interventional clinical trials:(show top 50) (show all 545)
Search NIH Clinical Center for Brody Myopathy
MalaCards organs/tissues related to Brody Myopathy:35
Skeletal muscle, Spinal cord, Brain, Liver, Testes, Breast, Prostate
FMA organs/tissues related to Brody Myopathy:17
Articles related to Brody Myopathy:
UniProtKB/Swiss-Prot genetic disease variations for Brody Myopathy:69
Clinvar genetic disease variations for Brody Myopathy:5
Search GEO for disease gene expression data for Brody Myopathy.
Pathways related to Brody Myopathy according to GeneCards Suite gene sharing:(show all 20)
Cellular components related to Brody Myopathy according to GeneCards Suite gene sharing:
Biological processes related to Brody Myopathy according to GeneCards Suite gene sharing:(show all 7)
Molecular functions related to Brody Myopathy according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet