Autosomal dominant Charcot-Marie-Tooth disease type 2L
Synonyms: CMT2L
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. In the single family reported to date CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands absent or reduced tendon reflexes distal legs sensory loss and frequently a pes cavus. Progression is slow.
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 2L?
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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
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