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
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