Ryanodine receptor 1 gene produces ryanodine receptor 1 gene protein (RYR1)
Mutations in the RYR1 gene can lead to myopathy (RYR1-CMD). Affected individuals with the RYR1 mutation may have clinical features of both congenital myopathy and congenital muscular dystrophy. Affected people may be susceptible to another disease called hyperthermia, which can be fatal if not diagnosed appropriately and early. For this reason, it is important to get a correct diagnosis. Hyperthermia occurs as the body’s response to certain anesthetic gases and a certain type of muscle relaxant used to block the sensation of pain. If these drugs are used by patients, people at risk of hyperthermia may experience muscle stiffness, deterioration of muscle fibers (rhabdomyolysis), high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. These complications
RYR1-CMD is a slow or non-progressive disease. It can be autosomal recessive or autosomal dominant.