has material basis in germline mutation in GBF1 Charcot-Marie-Tooth Disease, axonal, type 2GG https://www.malacards.org/card/charcot_marie_tooth_disease_axonal_type_2gg https://www.malacards.org/card/charcot_marie_tooth_disease_dominant_intermediate_a autosomal dominant intermediate Charcot-Marie-Tooth disease type A CMT2GG GARD:0012437 Orphanet:100043 MEDGEN:1794143 CMTDIA SCTID:765744006 Charcot-Marie-Tooth disease, dominant intermediate A MONDO:0011675 DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate type A 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. MESH:C564702 UMLS:C5561933 OMIM:606483 autosomal dominant intermediate Charcot-Marie-Tooth disease