Charcot-Marie-Tooth (CMT) disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. CMT is the most common inherited neurological disorder, affecting an estimated 150,000 people in the United States.
The earliest symptoms, which can begin in early adolescence, usually involve muscle weakness in the feet causing foot abnormalities such as high arches (pes cavus) or curled toes (hammer toes). It may become difficult for individuals with CMT to hold up the foot or to walk on the heel of the foot. These difficulties may cause a higher than normal step (or gait) and can increase the chance of ankle injuries and tripping. As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair.
HIHG Co-Director and department chair Stephan Züchner, M.D., and his team has made significant discoveries in CMT, including the identification of serval dozen responsible disease genes. Most of them are now being used every day for diagnostic purposes around the world. This was possibly through our pioneering role in large-scale genomic sequencing studies and data sharing within the inherited Neuropathy Consortium. Our success includes the discovery of the most important dominant gene ‘MFN2’ and the most common recessive gene ‘SORD’. Together with academic investigators, patient organizations, and pharma industry we are working actively on therapeutic approaches that are expected in clinical trials within the next 12-18 months.
Our Team
If you are interested in joining any research study, please contact the HIHG study coordinators by calling 1-877-686-6444 or by emailing hihginfo@med.miami.edu.
For participation in our Charcot Marie Tooth Disease (CMT) study you can also contact the study coordinators directly by using the information below:
HIHG CMT Study
Phone: 1-877-686-6444
PO Box 091932 (M-860) I Miami, FL 33101
Lisa Abreu – Project Manager
Email: l.abreu@med.miami.edu
Phone: 305-243-9445