Charcot-Marie-Tooth disease dominant intermediate D

Rare Disease

MONDO:0011909

Also Known As

CMTDIDCharcot-Marie-Tooth disease caused by mutation in MPZCharcot-Marie-Tooth disease dominant intermediate type DCharcot-Marie-Tooth disease, dominant Intermediate type DCharcot-Marie-Tooth neuropathy dominant intermediate DDI-CMTDMPZ Charcot-Marie-Tooth diseaseautosomal dominant intermediate Charcot-Marie-Tooth disease type DCharcot Marie Tooth disease dominant intermediate 3Charcot-Marie-Tooth disease, dominant intermediate DCharcot-Marie-Tooth neuropathy, dominant Intermediate DDi-CmtdMPZ-related intermediate Charcot-Marie-Tooth neuropathy

Definition

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 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 axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.