Charcot-Marie-Tooth Disease, Demyelinating, Type 1b (CMT1B)

脱髓鞘腓骨肌萎缩症1B型(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Type 1b

Cmt1b

Hereditary Motor and Sensory Neuropathy Ib

Peroneal Muscular Atrophy

Hmsn Ib

Hmsn1b

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked to Duffy

Charcot-Marie-Tooth Neuropathy Type 1b

Charcot-Marie-Tooth Disease, Type 1b

Charcot-Marie-Tooth Disease, Type Ib

Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1b

Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1b

Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked to Duffy

Charcot-Marie-Tooth Disease Demyelinating Type 1b

Charcot-Marie-Tooth Disease, Demyelinating, 1b

Hereditary Motor and Sensory Neuropathy Type I

Hereditary Motor and Sensory Neuropathy I

Hereditary Motor and Sensory Neuropathy 1

Charcot-Marie-Tooth Neuropathy, Type 1b

Charcot-Marie-Tooth Disease

Hmsn Type I

Hmsn I

Hmsn1

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Charcot-Marie-Tooth病，脱髓型1b型，也称为Charcot-Marie-Tooth病1b型，与Roussy-Lévy遗传性无反射性肌萎缩症和Charcot-Marie-Tooth病，轴突型2a1型有关，症状包括背痛、头痛和疼痛。与Charcot-Marie-Tooth病，脱髓型1b型有关的重要基因是MPZ（髓鞘蛋白零），其相关通路/超通路包括神经嵴分化和参与CMT神经病的细胞内转运蛋白质。在该疾病的背景下，已提到的药物有叶酸和硫辛酸。相关组织包括骨骼肌和脊髓，相关表型为肌肉无力和脊柱侧弯。

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