Twitch response of striated muscle in patients with progressive external ophthalmoplegia, mitochondrial myopathy and focal cytochrome c-oxidase deficiency

Abstract

Some aspects of the contractile properties of skeletal muscle in patients with progressive external ophthalmoplegia (PEO), mitochondrial myopathy and focal cytochrome c-oxidase deficiency were investigated by studying the twitch response (TR) of the tibialis anterior muscle both at rest and after maximum isometric contraction. The results of needle electromyography were normal in four of the six examined patients, and myopathic in the remaining two. A slowing in muscle relaxation was the most frequently observed abnormality; significantly prolonged muscle contraction times and reduced twitch torque potentiation values after isometric contraction were also detected. TR abnormalities in PEO patients may be due either to a dysfunction of the contractile machinery depending upon impaired muscle energy supply or to altered muscle fiber characterized by the predominance of type I slow fiber. In addition to conventional electromyographic investigations, TR study may be a useful diagnostic tool in PEO patients.