Autosomal dominant myoglobinuria

Autosomal dominant myoglobinuria is a rare inherited muscle disorder characterized by recurrent episodes of rhabdomyolysis (breakdown of skeletal muscle tissue) leading to the release of myoglobin into the bloodstream and its subsequent excretion in the urine (myoglobinuria). The condition follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene inherited from one parent is sufficient to cause the disorder. During episodes, patients typically experience severe muscle pain, muscle weakness, and dark-colored (brown or reddish) urine due to the presence of myoglobin. Episodes are often triggered by physical exertion, fever, infections, fasting, or other metabolic stressors. The primary body system affected is the skeletal muscular system, though complications can extend to the kidneys, as myoglobin released during rhabdomyolysis can cause acute kidney injury if not promptly managed. Between episodes, patients may have normal or near-normal muscle function, though some individuals may develop progressive muscle weakness over time. Elevated serum creatine kinase (CK) levels are typically observed during acute episodes and may also be mildly elevated between episodes. Treatment is primarily supportive and preventive. During acute episodes, aggressive intravenous hydration is the cornerstone of management to protect kidney function and promote myoglobin clearance. Patients are advised to avoid known triggers such as intense physical activity, prolonged fasting, and extreme temperatures. There is currently no specific curative therapy for this condition. Genetic counseling is recommended for affected families. The specific genetic basis of autosomal dominant myoglobinuria remains incompletely characterized, and the condition is considered extremely rare.

Common questions about Autosomal dominant myoglobinuria