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遗传性运动感觉神经病伴肢端营养不良

Hereditary motor and sensory neuropathy with acrodystrophy

ORPHA:90119疾病

定义 英文原文(暂无中文)

Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.

别名

常染色体隐性遗传性轴索型Charcot-Marie-Tooth病伴肢端营养不良

基本事实

遗传方式
常染色体隐性

外部标识与链接

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
  • 中文病名:Orphanet 中文包,冻结于 2020-06-01
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)