Charcot-Marie-Tooth (CMT) disease is a neurological condition that causes problems with the muscles of your feet, legs, arms and hands. Although there is currently no cure, people with CMT can use a variety of therapies and strategies to help manage their symptoms.
What is Charcot-Marie-Tooth disease?
CMT disease (sometimes called hereditary motor and sensory neuropathy) is actually not a single disease, but is a group of genetic conditions affecting the nervous system.
Named after the three doctors who first described it (doctors Charcot, Marie and Tooth), CMT disease is progressive, meaning that it tends to get worse over time. It varies in how badly it affects people, but usually doesn’t cause severe disability or affect life expectancy.
There are many different types of CMT disease, all caused by a genetic error in one of the genes needed for healthy functioning of your peripheral nerves. These are the nerves that connect your body’s muscles, joints and skin to your spinal cord and brain, and transmit both sensations and commands for movement. If you have CMT disease, your peripheral nerves are abnormal and have trouble sending the signals they need to.
Symptoms or signs of Charcot-Marie-Tooth disease
Most people with CMT show the first signs of the condition by the age of 20. Problems usually develop first in the muscles that support the feet, then later in the hands.
Symptoms vary from person to person, but can include:
- weakness and wasting of the leg muscles, causing problems with balance and walking
- problems with the feet, such as weak ankles and curled toes
- numbness and coldness of the hands and feet
- hand weakness and loss of fine motor skills, which can make it hard to write clearly
- pain, usually as a result of walking abnormally.
Charcot-Marie-Tooth disease diagnosis
Your doctor may ask about any family history of genetic disease. If the doctor thinks you might have a neurological disorder, tests will be done to look for problems such as slow or weak nerve signals, or weakness or wastage of the muscles in the arms and legs. Genetic tests may also be done to try to work out which type of CMT disease is involved.
Living with Charcot-Marie-Tooth disease
Although CMT causes problems, there are many therapies that can help, such as:
- physiotherapy and exercise to help maintain movement, strength, flexibility and a healthy weight
- podiatry for proper foot care, including using orthotics and wearing appropriate footwear
- surgery to correct bone abnormalities
- occupational therapy, offering devices and strategies that will help with everyday tasks
- counselling to help manage pain and fatigue.
Where to go for help
To learn more about genes, types of genetic disorders, where to go for help and to find more information, you can visit healthdirect's genetic disorders guide.
Last reviewed: October 2016