/myopathy, lactic acidosis, and sideroblastic anemia

myopathy, lactic acidosis, and sideroblastic anemia

Rare Disease

MONDO:0000863

Also Known As

MLASAMSAmitochondrial myopathy and sideroblastic anaemiamitochondrial myopathy and sideroblastic anemiamyopathy, lactic acidosis and sideroblastic anaemiamyopathy, lactic acidosis and sideroblastic anemiamyopathy, lactic acidosis, and siderblastic anaemiamyopathy, lactic acidosis, and siderblastic anemiamyopathy with lactic acidosis and sideroblastic anaemiamyopathy with lactic acidosis and sideroblastic anemiasideroblastic anaemia and mitochondrial myopathysideroblastic anemia and mitochondrial myopathy

Definition

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.