Rhabdomyolysis is a clinical syndrome characterized by muscle tissue necrosis and release of intramuscular components into the circulation. Typical manifestations include muscle pain and myoglobinuria, causing dark urine. Serum creatinine kinase (CK) enzyme levels are usually markedly elevated. Severity can range from muscle enzyme elevation in the serum of an otherwise asymptomatic patient to extremely…
When evaluating patients with possible myopathic symptoms, rheumatologists must consider a rare, but important, group of inherited disorders: the metabolic myopathies. However, their diagnosis often remains a challenge. Early recognition of these primary metabolic myopathies is essential to help prevent disease morbidity and mortality from rhabdomyolysis. Here, we focus on the metabolic myopathies that present…