Friedreich's Ataxia 1예 (전기 생리학적 검사소견을 중심으로)

Abstract

Observing a 16 years old male of classical Friedreich's ataxia with progressive ataxia, dysarthria, areflexia, loss of vibration and proprioception, Babinski sign, pes cavus, scoliosis, hyperglycemia, optic atrophy and hearing deficits, the nerve conduction studies and several evoked potential studies are performed. The sensory nerve potentials are markedly decreased in amplitude and the average technique has to be used to get the potentials, worse distally. The motor nerve functions, however, are normal. There is no consistent waves recorded on BAEP even with maximal stimulation bilaterally. VEP reveals prolonged latencies bilaterally but with normal amplitudes. On median nerve SEP stimulated at wrist, the amplitudes of potentials at Erb's point look decreased and no definite evoked potentials are recored at contralateral scalp. In contrast, the cervical evoked potentials are normal in amplitudes and latencies.