Charcot-Marie-Tooth disease type 4B1

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Charcot-Marie-Tooth disease type 4B1

Synonyms: CMT4B1

Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe demyelinating sensorimotor neuropathy various degrees of complex myelin outfoldings seen on peripheral nerve biopsy very slow and often undetectable nerve conduction velocities and the typical CMT phenotype (i.e. distal muscle weakness and atrophy sensory loss and frequent pes cavus). Other reported features include facial weakness vocal cord paresis respiratory difficulties and skeletal deformities (e.g. chest deformities claw hands pes equinovarus).

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 March 2024

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