A Case Report of Hereditary Motor & Sensory Neuropathy Type V |
Soon-Yeol Chong, M.D., Hee-Kyu Kwon, M.D., , Chung-Hie Oh, M.D. |
Dept. of Rehabilitation Medicine, Korea University, Medical College |
유전성 운동 및 감각 신경병증 V형 - 증례보고 - |
정순열, 권희규, 오정희 |
고려대학교 의과대학 재활의학교실 |
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Abstract |
Hereditary Motor & Sensory Neuropathies (HMSN) are autosomal inherited disorders with clinical features of peroneal muscular atrophy. The disorder of peroneal muscular atrophy with pyramidal features has been referred to as HMSN Type V by Dyck. We have seen a 44 year-old male patient who complained of hypesthesia below the lovel of umbilicus and gait disturbance. Physical examination reveals increased knee jerk with extensor plantar reflex, pretibial muscle atrophy and weakness and hypesthesia below the level of T10. He was diagnosed as HMSN Type V by clinical manifestation, electrodiagnostic study and sural nerve biopsy. |
Key Words:
Hereditary motor and sensory neuropathy, Pyramidal features, Autosomal dominance |
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