Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Synonyms: CMT2A2
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Autosomal dominant Charcot-Marie-Tooth disease type 2A2?
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Clinical Trials
For a list of clinical trials in this disease area, please click here.