Charcot-Marie-Tooth disease dominant intermediate C

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.

Also known as: CMTDIC, Charcot-Marie-Tooth disease caused by mutation in YARS, Charcot-Marie-Tooth disease dominant intermediate type C, Charcot-Marie-Tooth disease, dominant Intermediate type C, DI-CMTC, YARS Charcot-Marie-Tooth disease, autosomal dominant intermediate Charcot-Marie-Tooth disease type C, Charcot-Marie-Tooth disease, dominant intermediate C

9 clinical trials for this condition and its sub-types.