Charcot-Marie-Tooth disease type 1B

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Synonyms: CMT1B

Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term) caused by mutations in the MPZ gene (1q22) that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) age 40) with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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