Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

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Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Synonyms: CMTDIB

A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities distal sensory loss reduced or absent deep tendon reflexes and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

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 February 2024

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Autosomal dominant intermediate Charcot-Marie-Tooth disease type B?

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