Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.

An 18 year old man presented with persistent exercise-induced muscle cramps of 6 months duration. He reported no change in the color of his urine. The patient was the third of four children born to consanguineous parents (first-degree cousins) of Jewish Iraqi origin. His early development was entirely l imb girdle muscular dystrophy is the collective name for a diverse group of disorders characterized by progressive weakness of the shoulder and pelvic girdle. It is caused by mutations in multiple genes encoding proteins involved in all aspects of muscle cell biology. To date, 21 cases of LGMD, classified by mode of inheritance, have been identified. Very-long-chain acyl coenzyme A dehydrogenase deficiency is a disorder of fatty acid oxidation and ketogenesis. It is one of eight inherited defects within the mitochondrial beta-oxidation pathway. When fatty acid oxidation is impaired, fatty acid-dependent organs such as cardiac and skeletal muscle, liver and brain undergo decompensation. Milder variants of the disease may manifest as chronic weakness, pain or recurrent rhabdomyolysis in adolescence or early adulthood. In the present report we describe a patient with a family history and manifestations compatible with VLCAD deficiency who was, however, ultimately diagnosed with limb girdle muscular dystrophy type 2B (LGMD2B). These findings