Charcot-Marie-Tooth disease type 2A2

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.

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, HMSN IIA2, HMSN2A2, MFN2 Charcot-Marie-Tooth disease type 2, hereditary motor and sensory neuropathy IIA2

10 clinical trials for this condition and its sub-types.