Charcot-Marie-Tooth Disease, axonal, type 2GG

Rare Disease

MONDO:0011675

Also Known As

CMT2GGCMTDIACharcot-Marie-Tooth disease dominant intermediate ACharcot-Marie-Tooth disease dominant intermediate type ACharcot-Marie-Tooth neuropathy dominant intermediate ADI-CMTAautosomal dominant intermediate Charcot-Marie-Tooth disease type ACharcot-Marie-Tooth disease, dominant intermediate ACharcot-Marie-Tooth neuropathy, dominant Intermediate aDi-Cmta

Definition

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 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 usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.