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Japanese

A Family of Hereditary Motor and Sensory Neuropathy with Spastic Paraplegia (HMSN type V) Presenting with Phenotypic Uniformity Including Onset in Early Childhood Mariko Yamashita 1 , Toru Yamamoto 1 , Nobuyuki Oka 2 1Department of Neurology, Osaka Saiseikai Nakatsu Hospital 2Department of Neurology, Kyoto University Faculty of Medicine Keyword: hereditary motor and sensory neuropathy with spastic paraplegia , HMSN type V , nerve biopsy pp.975-979
Published Date 1999/11/1
DOI https://doi.org/10.11477/mf.1406901517
  • Abstract
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The proband was a 38-year-old mother, who had begun to walk abnormally at one year old. She devel-oped weakness and wasting in the intrinsic hand mus-cles in the third decades. On neurological examina-tions, she showed weakness with atrophy in the distal muscles of the upper and lower limbs, mild impair-ment of deep sensation in the feet, and severe spastic gait with scissoring. Deep tendon reflexes were hy-poactive in the arms and at the ankles, and brisk at the knees . Babinski sign was present bilaterally.


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電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院

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