歩行障害の悪化が契機となり遺伝子解析によりＸ連鎖性シャルコー・マリー・トゥース病と診断された末梢神経障害の１症例

Abstract

We report a 59-year-old man with X-linked Charcot-Marie-Tooth disease. Although the patient had already been diagnosed with polyneuropathy at a hospital, he was admitted to our department for further rehabilitative treatments because he began to notice that he needed assistance while walking. On admission, he had muscle atrophy and weakness in the distal part of his extremities, sensory loss of touch and pain in the fingers, feet and toes, and loss of deep tendon reflexes, and pes equino-cavus. Conduction velocities of the bilateral median, ulnar, and tibial nerves were lower than the standard values, and evoked potentials of the bilateral sural nerves were not detected. Needle electromyography showed polyphasic motor unit action potentials in the left tibialis anterior and right first dorsal interosseus muscles. Gene analysis disclosed a mutation (Trp77→stop codon) in the connexin 32. Therefore, we diagnosed him as having X-linked Charcot-Marie-Tooth disease. For rehabilitative treatments, we prescribed resistive exercises for the upper and lower extremities, prolonged stretching of the ankle joints on a standing board, and gait training with bilateral Lofstrand's crutches and shoe-horn type plastic ankle-foot orthosis. A standard wheelchair was also made available for going outside.