Gamstorp-Wohlfart syndrome is a rare genetic disorder characterized by recurring episodes of muscle pain and weakness, primarily affecting the lower limbs. This syndrome is named after the two Swedish physicians, Olof Gamstorp and Gittan Wohlfart, who first described the condition in the 1960s.
Individuals with Gamstorp-Wohlfart syndrome experience periodic attacks of muscle pain and fatigue that typically last for a few hours to several days. These episodes, known as myoglobinuria, are often triggered by strenuous exercise or infections. Myoglobin, a muscle protein, is released into the bloodstream during these attacks, leading to dark-colored urine. The affected individuals may also develop muscle stiffness and weakness, which can limit their mobility.
Gamstorp-Wohlfart syndrome is inherited in an autosomal dominant manner, which means that an individual only needs to inherit the mutation from one parent to develop the disorder. The underlying genetic mutation associated with this syndrome affects the calcium channels in muscle fibers, leading to abnormal muscle contractions and impairing muscle function.
Treatment for Gamstorp-Wohlfart syndrome is mainly focused on managing and preventing episodes. This may include physical therapy to improve muscle strength and endurance, as well as lifestyle modifications to avoid triggering factors for muscle attacks. Medications such as acetazolamide or dichlorphenamide may also be prescribed to reduce the frequency and severity of episodes.
Overall, Gamstorp-Wohlfart syndrome is a rare genetic disorder characterized by recurrent muscle pain and weakness, with appropriate management enabling individuals to lead productive lives.
