What is Charcot-Marie-Tooth?

If you think of yourself as clumsy because you often trip or fall over, or you have problems with your hands and feet, it could be down to a little-known neurological disorder called Charcot-Marie-Tooth.

Charcot-Marie-Tooth – or CMT for short – is named after the three scientists who discovered it. It’s a genetic disorder that can cause uncontrollable pain, chronic fatigue and deformities in the hands, lower legs and feet, leading to balance problems and falls. And while it’s not common – around 23,000 people in the UK are thought to be affected – CMT may not be diagnosed in many people, as some experts aren’t even aware of it.

“There are still too many medical professionals including GPs, physiotherapists, orthotists, surgeons and even neurologists who still don’t know what CMT is,” says Karen Butcher, CEO of the charity CMT UK.

CMT is a progressive disorder that causes muscle weakness and wasting in the lower legs and feet, leading to problems such as hammer toes, restricted mobility and pain. The hands and fingers are also affected, making simple things such as fastening shoe laces and buttons difficult. And while CMT isn’t life-threatening for most, it can significantly reduce the quality of the lives of those affected.

Running in families

“It is important for us to reach those people who think they might have the condition, but haven’t been diagnosed yet,” says Butcher.

“Sometimes the symptoms aren’t obvious, but due to the fact that CMT affects the hands and feet, it could be they have trouble balancing, find they regularly trip or fall over and are constantly tired. For some women, a telling sign is that they can’t wear high heel shoes due to high arches and hammer toes.

“There could be many reason for symptoms like these, but if you have any it would be a good idea to ask your GP about CMT – early diagnosis helps improve the lives of those with the condition. And because there’s a 50 per cent chance it can be passed on from a parent to a child, professional genetic counselling can also be given.”

Diagnosis difficulties

CMT is currently incurable, but it can be managed effectively if diagnosed correctly.

However, according to Mary Reilly, Professor of Clinical Neurology and consultant neurologist at UCLH, getting an official diagnosis often takes longer than it should. Diagnosis may also be more complicated because CMT isn’t a single disorder but a group of conditions, which means one person with CMT may have different symptoms from another.

“Many people put up with CMT for a long time thinking they are clumsy or have funny feet, suffering in silence when they could be receiving help and support.” she adds.

“Commonly there is weakening and loss of muscle and reduced sensation, predominantly in the feet and legs, but also in the hands and arms in the advanced stages of disease. These lead to a range of orthopaedic complications, leading to a variety of mobility and dexterity problems, and sometimes scoliosis.”

September is CMT Awareness Month. Find out more about the condition by visiting www.cmt.org.uk.