Charcot-Marie-Tooth disease dominant intermediate B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is 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.

Also known as: CMTDI1, CMTDIB, Charcot-Marie-Tooth disease caused by mutation in DNM2, Charcot-Marie-Tooth disease dominant intermediate type B, Charcot-Marie-Tooth disease, axonal type 2M, Charcot-Marie-Tooth disease, dominant Intermediate type B, DI-CMTB, DNM2 Charcot-Marie-Tooth disease

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