Charcot-Marie-Tooth disease 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: http://rarediseasesnetwork.epi.usf.edu/INC/register/index.htm

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.

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.