Brody myopathy

Disease Overview

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.[11937][11938] 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.[11937][11938][11939] 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.[11939] 

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.[11937][11936] More research may help clarify whether these are two different disorders or a variation of the same disorder.

Synonyms

• Brody disease
• Sarcoplasmic reticulum -Ca2+ATPase deficiency