Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited conditions that damage the peripheral nerves.

It's also known as hereditary motor and sensory neuropathy (HMSN).

The peripheral nerves are found outside the main central nervous system (brain and spinal cord). They control the muscles and relay sensory information, such as the sense of touch, from the limbs to the brain.

People with CMT may have:

muscle weakness in the feet, ankles, legs and hands
an awkward way of walking (gait)
highly arched or very flat feet
numbness in the feet, arms and hands

The symptoms of CMT usually start to appear between the ages of five and 15, although they sometimes don't develop until well into middle age or later.

CMT is a progressive condition. This means the symptoms get slowly worse, making everyday tasks increasingly difficult.

What causes CMT?

CMT is caused by an inherited fault in one of the many genes responsible for the development of the peripheral nerves. This fault means the nerves become damaged over time.

A child with CMT may have inherited the genetic fault responsible for the disease from one or both of their parents.

There is no single faulty gene that causes CMT. There are many varieties of CMT that are caused by different genetic faults and these can be inherited in several different ways.

The chances of passing CMT to your child depend on the specific genetic faults you and your partner carry.

Testing for CMT

See your GP if you think you may be developing symptoms of CMT. If your GP suspects you may have the condition, they will refer you to a neurologist (a doctor who specialises in treating conditions of the nervous system) for further tests to confirm the diagnosis.

You should also see your GP if you or your partner have a family history of CMT and are considering having a baby. Your GP can refer you for genetic counselling, where you can discuss your concerns and the options available with a genetics specialist.

How CMT is treated

There is currently no cure for CMT. However treatments can help relieve symptoms, aid mobility and increase the independence and quality of life for people with the condition.

These treatments may include physiotherapy, exercise, occupational therapy and walking aids. In some cases, surgery may be needed to correct problems such as flat feet and muscle contractures (where muscles shorten and lose their normal range of movement).

Living with CMT

CMT is not life-threatening, and most people with the condition have the same life expectancy as a person who does not have CMT.

However, it can make everyday activities very difficult. Living with a long-term, progressive condition can also have a significant emotional impact.

Some people find it helpful to speak to others with the condition through support groups. You may also benefit from a talking therapy, such as cognitive behavioural therapy (CBT).

You can find more information, support and practical advice about living with CMT on the CMT UK website. CMT UK is the main charity and support group for people with CMT in the UK.