Autosomal dominant Charcot-Marie-Tooth disease type 2J
Synonyms: CMT2J
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy characterized by a relatively late onset pupillary abnormalities and deafness in most patients associated with distal weakness and muscle atrophy.
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 2J?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.