Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. The disease is Charcot-Marie-Tooth disease type 2A2 (Monarch Disease Ontology identifier MONDO_0012231). Also known as: CMT2A2, Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2, Charcot-Marie-Tooth disease type 2A2A, Charcot-Marie-Tooth disease, axonal, type 2A2A, Charcot-Marie-Tooth neuronal type 2A2, Charcot-Marie-Tooth neuropathy type 2A2, HMSN IIA2, HMSN2A2.