Brody Myopathy malady
Genetic diseases, Rare diseases, Neuronal diseases categories
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42NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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).
MalaCards based summary: Brody Myopathy, also known as brody disease, is related to pseudomyotonia, and has symptoms including An important gene associated with Brody Myopathy is ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1). Affiliated tissues include skeletal muscle.
NIH Rare Diseases:42 Brody disease is a type of myopahty or "disease of muscle." signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise.Â the condition tends to beÂ inherited in an autosomal recessive fashion. some cases of brody disease are caused by mutations in a gene called â€śatp2a1,â€ť for other cases the underlying genetic defect has not been identified. last updated: 3/20/2009
Wikipedia:65 Brody myopathy is a genetic disease. more...
Description from OMIM:46 601003
Brody Myopathy, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood
Diseases related to Brody Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:
MalaCards organs/tissues related to Brody Myopathy:32
UniProtKB/Swiss-Prot genetic disease variations for Brody Myopathy:64
Clinvar genetic disease variations for Brody Myopathy:6
Search GEO for disease gene expression data for Brody Myopathy.
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet