Brody Myopathy malady

Genetics Home Reference: 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).¹⁷

MalaCards: Brody Myopathy, also known as sarcoplasmic reticulum -ca2+atpase deficiency, is related to pseudomyotonia. 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: Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called “ATP2A1,” for other cases the underlying genetic defect has not been identified.³⁰

Wikipedia: Brody myopathy is a genetic disease.⁴⁴ more...

OMIM: 601003

Aliases & Descriptions:

brody myopathy 6 7 30 16 17 33 43 sarcoplasmic reticulum -ca2+atpase deficiency 30

brody disease 30

Diseases related to brody myopathy by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	pseudomyotonia	6.4

Clinical features from OMIM: 601003

Approved drugs:

Drug clinical trials:

Genetic tests related to brody myopathy:

id	Genetic test	Affiliating Genes
1	Brody Myopathy clinical/research	ATP2A1

MalaCards organs/tissues related to brody myopathy:

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Genes related to brody myopathy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ATP2A1	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	11.0	Disorders