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

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b(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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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b, also known as charcot-marie-tooth disease type 1b, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, axonal, type 2a1, and has symptoms including back pain, headache and pain. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1b is MPZ (Myelin Protein Zero), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Folic acid and Lipoic acid have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are muscle weakness and scoliosis
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参考文献
MALACARDS
AD
Infant
1-9/100000
30
252
313

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