/Charcot-Marie-Tooth disease type 2A2

Charcot-Marie-Tooth disease type 2A2

Rare Disease

MONDO:0012231

Also Known As

CMT2A2Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2Charcot-Marie-Tooth disease type 2A2ACharcot-Marie-Tooth disease, axonal, type 2A2ACharcot-Marie-Tooth neuronal type 2A2Charcot-Marie-Tooth neuropathy type 2A2HMSN IIA2HMSN2A2MFN2 Charcot-Marie-Tooth disease type 2autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2hereditary motor and sensory neuropathy IIA2CMT2A2ACharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2ACharcot-Marie-Tooth disease, axonal, type 2A2Charcot-Marie-Tooth disease, neuronal, type 2A2Charcot-Marie-Tooth neuropathy, type 2A2HMSN IIa2autosomal dominant Charcot-Marie-Tooth disease type 2A2hereditary motor and sensory neuropathy IIa2

Definition

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.