Autosomal dominant Charcot-Marie-Tooth disease type 2B
Synonyms: CMT2B
A severe form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy with onset in the 2nd or 3rd decade characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes appear in childhood.
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 2B?
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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.
DYNC1H1 Association
Our mission is to improve the lives of people with mutations in the DYNC1H1 gene and to create opportunities for research on DYNC1H1 with a constant drive towards low-risk, high reward treatments. Our commitment to our community is to forge support networks within the diagnosed persons, providers, and outside community to make the wait for treatments easier.
Clinical Trials
For a list of clinical trials in this disease area, please click here.