Kennedy Syndrome, also known as Exertional Rhabdomyolysis with Hemolysis, is a rare genetic disorder characterized by episodes of exertional myopathy, hemolytic anemia, and muscle pain. It is named after Kennedy, the first family affected by this disorder, who were identified and described in 1970.
The main symptom of Kennedy Syndrome is muscle pain and weakness that is triggered by physical exertion. The muscles can become inflamed and damaged, leading to the release of muscle enzymes into the bloodstream. This can result in a breakdown of muscle tissue, known as rhabdomyolysis. Additionally, the disorder often leads to the destruction of red blood cells, causing hemolysis and resulting in anemia.
The severity and frequency of episodes can vary, but symptoms typically worsen with repeated episodes and age. In some cases, individuals may experience symptoms such as dark urine, fatigue, and jaundice due to the destruction of red blood cells.
Kennedy Syndrome is caused by mutations in the AGL gene, which provides instructions for producing an enzyme called glycogen debranching enzyme. This enzyme is involved in the breakdown of glycogen, a complex sugar that serves as a primary source of energy for the muscles and other tissues. Mutations in the AGL gene lead to a reduced or absent glycogen debranching enzyme activity, affecting glycogen processing, and resulting in muscle damage and hemolysis.
Currently, there is no cure for Kennedy Syndrome, and treatment mainly focuses on managing symptoms and preventing episodes. This may involve avoiding excessive physical exertion, particularly during times of illness or stress, staying well-hydrated, and ensuring adequate nutrition.
