Mitochondriale enzephalomyopathien

Mitochondrial Enzephalomyopathies are caused by defects of the respiratory chain. Frequently they present with a multisystemic involvement and predominantly muscle and nervous system are affected (e.g. external ophthalmoplegia, limb weakness, seizures). Typically, onset is in childhood or early adulthood. Underlaying molecular defects are localized both in mitochondrial DNA and nuclear DNA. Consequently, there are different modes of inheritance (maternal and autosomal recessive or dominant) but sporadic occurrence is possible, too. Besides molecular testing an elevated lactate in blood or cerebral spinal fluid has diagnostic value. Histological changes of mitochondria (ragged-redfibers and COX-negative fibers) and decreased activities of respiratory chain are found in a muscle biopsy specimens. At the moment only smptomatic therapy is available.