SNP Shot: Genomic Insights

Brody myopathy is a disorder impacting skeletal muscles, the muscles responsible for body movement. Those affected experience muscle cramps and stiffness following exercise or intense physical activity, particularly in cold weather. These symptoms generally appear during childhood. While often painless, they may occasionally cause minor discomfort. Muscle relaxation usually occurs after a short rest period. The most frequently affected muscles are located in the arms, legs, and face, notably the eyelids.

Some individuals with Brody myopathy may develop rhabdomyolysis, a condition where exercise triggers the breakdown of muscle tissue. This breakdown releases myoglobin, a protein, into the bloodstream. The kidneys process this protein, and it is excreted in the urine (myoglobinuria). The presence of myoglobin in the urine causes it to appear red or brown.

Inheritance:

Brody myopathy typically follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene within each cell must carry mutations for the condition to manifest. In autosomal recessive inheritance, each parent of an affected individual carries one copy of the mutated gene, but they generally do not exhibit symptoms of the disease. While most cases are caused by mutations in the ATP2A1 gene, some individuals with autosomal recessive Brody myopathy lack a detectable mutation in this gene, and the cause of their condition remains unknown.