Charcot-Marie-Tooth disease dominant intermediate C

Rare Disease

MONDO:0012012

Also Known As

CMTDICCharcot-Marie-Tooth disease caused by mutation in YARSCharcot-Marie-Tooth disease dominant intermediate type CCharcot-Marie-Tooth disease, dominant Intermediate type CCharcot-Marie-Tooth neuropathy dominant intermediate CDI-CMTCYARS Charcot-Marie-Tooth diseaseautosomal dominant intermediate Charcot-Marie-Tooth disease type CCharcot-Marie-Tooth disease, dominant intermediate CCharcot-Marie-Tooth neuropathy, dominant Intermediate CDi-CmtcYARS-related intermediate Charcot-Marie-Tooth neuropathy

Definition

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with 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, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.