What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease (CMT) is an inherited nerve disorder that affects movement and sensation.
Named after three neurologists who discovered it in the 1800s, CMT is one of the most common inherited neurological conditions, affecting about 1 in 2,500 people in the U.S. It primarily weakens muscles in the hands and feet, leading to balance issues and sensory loss.
Dr. Nakul Katyal leads our CMT Association-accredited program where we offer the most comprehensive care for our patients. In this blog, Dr. Katyal shares his expertise in Charcot-Marie-Tooth and how UK HealthCare is treating it.
Early signs and symptoms
CMT often starts with frequent tripping, toe-walking and muscle loss in the feet and lower legs.
Many people experience tingling or numbness. A common sign is foot deformities like high arches and hammer toes.
Diagnosis and treatment
Symptoms of CMT can appear at any age. Doctors diagnose CMT through neurological exams, nerve tests and genetic testing.
CMT is caused by genetic mutations affecting nerve function. Some mutations damage myelin (the protective layer around nerves), while others affect the nerve fibers themselves.
The disease is usually inherited, though patterns vary. There is no cure for CMT, but treatments help manage symptoms. These include physical and occupational therapy, braces for support and sometimes surgery to correct deformities.
Daily life with CMT
CMT can significantly affect daily activities and overall lifestyle.
Patients may find it difficult to perform tasks that require fine motor skills, such as buttoning a shirt or using utensils.
Walking may become harder due to foot deformities and poor balance, leading to a higher risk of falls.
Patients often rely on assistive devices like braces, canes or walkers to maintain independence.
Our team and research at UK HealthCare
At our CMT Center of Excellence, experts work together to provide specialized care.
Ongoing research and clinical trials are exploring new treatments, including gene therapy. UK HealthCare is one of 60 centers in the world recognized by the CMT Association. We offer comprehensive care, reducing the need for long-distance travel.
Typically, patients spend 1-2 hours in our clinic, where we evaluate a range of parameters, including but not limited to:
- motor strength
- sensory exams
- gait testing
- timed walk and mobility assessments
These evaluations help us track the progression of each CMT subtype over time. Our goal is to bring cutting-edge treatments to patients in Kentucky.
While there is no cure, CMT patients can live fulfilling lives with the right support. UK HealthCare is dedicated to providing expert care and advancing research to improve outcomes for those with CMT.
