Charcot-Marie-Tooth disease type 4E

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Charcot-Marie-Tooth disease type 4E

Synonyms: Autosomal recessive congenital hypomyelinating neuropathy | CMT4E

Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy) extremely slow nerve conduction velocities potential respiratory dysfunction cranial nerve involvement and the typical CMT phenotype i.e. distal muscle weakness and atrophy sensory loss and foot deformity.

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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