has material basis in germline mutation in MPZ Charcot-Marie-Tooth disease dominant intermediate D https://www.malacards.org/card/charcot_marie_tooth_disease_dominant_intermediate_d Orphanet:100046 OMIM:607791 MPZ-related intermediate Charcot-Marie-Tooth neuropathy CMTDID Charcot-Marie-Tooth disease, dominant Intermediate type D MPZ Charcot-Marie-Tooth disease UMLS:C1843075 autosomal dominant intermediate Charcot-Marie-Tooth disease type D MESH:C564333 SCTID:765747004 DOID:0110200 GARD:0009207 Charcot-Marie-Tooth disease, dominant intermediate D 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. Charcot-Marie-Tooth disease caused by mutation in MPZ Charcot-Marie-Tooth disease dominant intermediate type D Charcot Marie Tooth disease dominant intermediate 3 DI-CMTD MONDO:0011909 MEDGEN:334318 Charcot-Marie-Tooth disease autosomal dominant intermediate Charcot-Marie-Tooth disease