Charcot-Marie-Tooth disease (CMT)

Charcot-Marie-Tooth disease (CMT) c.rowland Wed, 04/01/2020 - 11:10

Many people with CMT, particularly CMT type 1, have high arched feet (known as pescavus). This may be obvious from a very early age, and tends to become particularly noticeable at the time of the growth spurt associated with puberty. Some people have weakness in their hands, but this does not usually cause symptoms until after the age of 20.

People can have numbness in their feet and hands (they usually notice it in the feet first), which is not often troublesome. Having cold feet is quite common too. Very rarely, people can experience severe numbness, which means you can easily injure or hurt yourself without knowing it. For example, you may develop ulcers on your feet if your shoes don’t fit well, or burn your hands on hot cups, and so on.

Although pain is a common experience for people with CMT, neuropathic pain (nerve pain which has specific characteristics) is less common. What can be more common is pain from secondary effects on the joints or from foot deformities, or muscle cramps. People may lose the reflexes (such as the knee jerk), which doesn’t cause any trouble, but doctors will often notice this early on. A few people with CMT 1 have shakiness of the hands (tremor). The combination of tremor and CMT is sometimes referred to as the RoussyLevy syndrome.

The types of CMT which run through the generations in families are not usually severely disabling and are very slowly progressive. It is unusual for people with CMT to lose the ability to walk, although some people – especially when they are older – need to use a stick or other walking aids. It is important to stress that the condition often varies enormously in severity, even among members of the same family. Ten to 20 percent of people with the condition have no symptoms at all, however examination or electrical testing may show that they do have the condition.

https://mduk-resources-stage.s3.eu-west-1.amazonaws.com/pdf/factsheets/Charcot-Marie-Tooth-disease-CMT.pdf