Charcot-Marie-Tooth disease dominant intermediate B

Rare Disease

MONDO:0011674

Also Known As

CMTDI1CMTDIBCharcot-Marie-Tooth disease caused by mutation in DNM2Charcot-Marie-Tooth disease dominant intermediate type BCharcot-Marie-Tooth disease, axonal type 2MCharcot-Marie-Tooth disease, dominant Intermediate type BCharcot-Marie-Tooth neuropathy dominant intermediate BDI-CMTBDNM2 Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2MCharcot-Marie-Tooth disease, axonal, type 2MCharcot-Marie-Tooth disease, dominant Intermediate B, with neutropeniaCharcot-Marie-Tooth disease, dominant intermediate BCharcot-Marie-Tooth neuropathy, axonal, type 2MCharcot-Marie-Tooth neuropathy, dominant Intermediate BCharcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropeniaCmtdi1DNM2-related intermediate Charcot-Marie-Tooth neuropathyDi-CMTBautosomal dominant intermediate Charcot-Marie-Tooth disease type B

Definition

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.