Medicines for Charcot-Marie-Tooth disease

What it is

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological conditions. It affects the peripheral nerves — the nerves that carry signals between the brain and spinal cord and the muscles and skin of the limbs. In CMT, these nerves gradually deteriorate, so the muscles they supply weaken and waste, and sensation is affected. Symptoms usually begin in the feet and legs (as the longest nerves are affected first) and progress slowly over years, later often involving the hands. Features include: gradually progressive weakness and wasting of the muscles of the feet, lower legs, and later the hands; foot problems such as high arches and curled toes, and foot drop (difficulty lifting the foot, causing tripping); reduced sensation, numbness or altered feeling in the feet and hands; balance problems; and sometimes foot pain or cramps. The severity and age of onset vary widely, even within a family, and there are several genetic types. Importantly, CMT is usually slowly progressive and, in most forms, does not affect life expectancy, and many people remain active and independent, though it can affect mobility and daily activities. It is diagnosed with nerve tests and genetic testing. There is no cure, but a lot can be done to help maintain function and quality of life.

How it is treated

There is currently no cure for CMT, so management focuses on maintaining function, mobility, comfort and independence, and preventing complications, with a multidisciplinary approach tailored to the individual. Key elements include: physiotherapy to maintain muscle strength, flexibility and balance, and to guide safe, appropriate exercise; occupational therapy for hand function and daily activities; and, importantly, foot care and podiatry, as foot problems are common — including appropriate footwear, insoles or orthotics, and ankle-foot splints (braces) to help with foot drop and improve walking and reduce tripping. Managing any pain, and supporting balance and preventing falls, are part of care. In some people, surgery (for example to correct foot deformities) is considered where it would improve function or comfort. Aids and adaptations support independence as needed. Because CMT is inherited, genetic counselling is offered to explain the condition, the specific type, and inheritance, and to support family members. Regular review helps adjust support as the condition progresses slowly over time. The reassuring message is that, although CMT is a lifelong, slowly progressive condition without a cure, most forms do not shorten life, and tailored support — physiotherapy, foot care and orthotics, and aids — helps people maintain function, mobility and independence and stay active.