Charcot-Marie-Tooth disease type 2B

Are there any research studies investigating Charcot-Marie-Tooth type 2B?

Yes. The Inherited Neuropathies Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with all types of Charcot Marie Tooth disease through research. The Inherited Neuropathies Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see:

Last updated on 05-01-20

How rare is Charcot-Marie-Tooth type 2B?

Unfortunately for the rare diseases, there's often not a calculated incidence or prevalence. There is no official method for tracking these conditions, only estimates. Studies suggest that around 20-30% of people with Charcot Marie Tooth disease have type 2. In only around 20-30% of cases of CMT type 2 is the underlying genetic defect identified. Most of these cases are due to a mutation in the MFN2 or GJB1 genes. CMT type 2 due to mutations in the RAB7A gene (type 2B disease) is very rare. Fewer than 10 families with CMT2B have been described in the medical literature.

Last updated on 05-01-20

What is Charcot-Marie-Tooth type 2B?

Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited peripheral neuropathy with onset in the second or third decade of life. Common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle atrophy). This type of CMT is also associated with the formation of ulcers in the hands and feet. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion. Treatment is aimed at addressing the symptoms in each patient and often involves a team of specialists.

Last updated on 05-01-20

Name: Charcot-Marie-Tooth Association PO Box 105
Glenolden, PA, 19036, United States
Phone: +1-610-499-9264 Toll Free: 1-800-606-2682 Fax : +1-610-499-9267 Email: Url:
Name: Hereditary Neuropathy Foundation Inc. 401 Park Avenue, 10th Floor
New York, NY, 10016, United States
Phone: +1-212-722-8396 Toll Free: 1-855-435-7268 Fax : +1-917-591-2758 Email: Url:
Name: Charcot-Marie-Tooth UK CMT UK 3 Groveley Road Christchurch, Dorset BH23 3HB
United Kingdom
Phone: 0300 323 6316 Email: Url:
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: Url:
Name: Muscular Dystrophy UK 61A Great Suffolk Street
London, SE1 0BU, United Kingdom
Phone: (+44) 0 020 7803 4800 Toll Free: 0800 652 6352 (Helpline) Email: Url:
Name: Charcot-Marie-Tooth Association Australia Inc. Building 22 Concord Hospital
Concord, NSW, 2139, Australia
Phone: (02) 9767 5105 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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