Charcot-Marie-Tooth disease (CMT) is one of the most common inherited muscle-wasting conditions. It is a peripheral neuropathy, which means it affects the motor and sensory nervous system.
It particularly affects the feet, lower legs, hands and forearms.
There are many different types of CMT and the symptoms of the condition vary between types. It also varies between individuals, even those within the same family. In many cases it progresses slowly. Around 10-20 percent of those affected have no symptoms at all.
The first symptoms of CMT, which usually appear in childhood, are very high foot arches and problems lifting the feet. People with CMT may have problems with balance and walking longer distances. They may lose their reflexes and have weakness in their hands. Some people may also have chronic pain and tiredness.
It is unusual for people with CMT to lose the ability to walk. However, some will need to use mobility aids as they get older. The problems with balance mean that people with CMT can be at risk of trips and falls. The lack of sensation in the hands and feet mean that people with CMT need to be very careful to prevent and detect injuries to these areas.
About 23,000 people in the UK have CMT. Although the condition does not affect life-expectancy, it is important that its symptoms are managed. Access to the right specialist care is vital.
There is currently no treatment available to address the underlying genetic causes of CMT. Muscular Dystrophy UK is currently funding research into the process that cells use to gather nutrients from their surroundings. The aim is to find out what role this process plays in CMT, which may suggest potential approaches the development of future treatments.
Key meeting at the Scottish Medicines Consortium
Patient information day on 21 March 2016 in Oxford
according to study conducted by researchers in the UK, Sweden and US
ING London choose MDUK to be their Charity of the Year 2016