What is Charcot-Marie-Tooth disease (CMT)?
Charcot-Marie-Tooth disease (CMT) is the most commonly used name for a wide variety of inherited neuropathies. More than 70 different genes that cause CMT have been identified, several by Penn clinician-scientists. Collectively, the various forms of CMT are among the most common, inherited diseases of the nervous system, affecting 1 in 2,500 people.
A broad range of diseases can affect nerves and muscles and often produce similar symptoms, such as weakness and numbness in the limbs. Penn Medicine’s neuromuscular disorders program offers consultations and thorough neurodiagnostic testing to help diagnose and treat even the most complex neuromuscular conditions, like CMT.
What does CMT feel like?
While each person experiences CMT differently, muscular weakness and sensory disorders in the limbs are common. Symptoms may appear in the feet and legs first, then spread to your hands and arms over time.
The severity of symptoms can range from mild to severe and include:
- Muscle weakness or muscle loss in your limbs
- Uncomfortable sensations in your hands and feet, including numbness, tingling, burning, pain, and loss of temperature perception
- Foot irregularities including a high arch, unusually bent toes (hammer toes), and a foot that drags when walking (foot drop)
- Trouble running or walking, and frequent falls
What we know about the causes of CMT
Charcot-Marie-Tooth disease is caused by gene mutations that affect the nerves in the legs, arms, feet, and hands. Sometimes the nerves themselves are damaged, and other times the myelin sheath, which surrounds the nerves, is affected. These nerves send signals between your limbs and the brain, causing muscular and sensory issues in your extremities.
There are dozens of genetic variants that can cause Charcot-Marie-Tooth disease, resulting in different versions of the disease. These genetic alterations can be passed down by one or both parents. Those with close family members who have the disease are at higher risk of having the condition.
Making a CMT diagnosis
Diagnosing neuromuscular illness can be a complex process. A specialist in neuromuscular disease will review your complete medical history and perform a comprehensive neurological examination. When appropriate, our care teams use technologically advanced neurodiagnostic facilities at Penn Medicine for the most thorough evaluation. Genetic testing may also be recommended. Our sophisticated diagnostic techniques help pinpoint an accurate diagnosis to create a treatment plan that’s targeted to your needs.
Diagnostic testing includes:
Managing CMT with specialized care
While there’s no cure for CMT, focused treatments can help you manage symptoms and feel better. We’ll advise you on the use of medications, physical therapy, and occupational therapy to reduce pain and support body movement. Orthopedic devices can help maintain mobility and prevent injury. In some cases, surgery is recommended. Your doctor will create an optimal care plan for you based on your specific symptoms and overall health and may suggest participation in clinical trials if available.
As a research hospital, our care is based on the latest medical studies. The Muscular Dystrophy Association in partnership with the Charcot-Marie-Tooth Association (CMTA) sponsors a CMT Center of Excellence at the Hospital of the University of Pennsylvania, one of seven such centers in North America. Our physicians are also part of the Inherited Neuropathy Consortium, an NIH-supported group that participates in clinical trials for CMT. These collaborative efforts help ensure that you receive high-quality care with experts focused on neuromuscular conditions.