Hereditary Charcot-Marie-Tooth (CMT) disease strikes 1 in 2500 people.
Researchers from the Flanders Interuniversity Institute for Biotechnology (VIB) connected to the University of Antwerp are now demonstrating that mutations in mitofusin 2 are the major cause of CMT2, a specific type of the disease.
These findings are important for a better understanding of CMT in general, and they also form the basis for a genetic test for CMT2. This test is already available.
Charcot-Marie-Tooth (CMT) disease is the most common hereditary disorder of the peripheral nervous system, leading to a weakening of the muscles in the lower legs, feet and hands as the nerves that run from the spinal cord to the muscles die off. The syndrome is extremely variable: some patients hardly notice it, while others become confined to a wheelchair. Today, only palliative treatment is available - there are as yet no effective therapies for preventing, retarding, or stopping the course of the disease.