Treatment for Charcot-Marie-Tooth disease (CMT) is based on rehabilitation techniques to help you live with your symptoms, and surgery to correct any deformities in your bones, for example, in your feet.
As CMT is a progressive condition (it gets worse over time), you will need to be assessed regularly in order to check for any new developments in your condition. How often you are assessed will depend on the type of CMT that you have, and the severity of your symptoms.
Your treatment programme may involve a number of healthcare professionals working together in a multidisciplinary team (MDT). You will usually have a doctor who co-ordinates your treatment programme and makes sure that every aspect of your condition is closely monitored and treated if necessary.
See the box (right) for some of the healthcare specialists that may be included in your MDT.
Physiotherapy is one of the most important treatment methods for relieving the symptoms of CMT and slowing the progression of the condition.
Physiotherapy, often referred to as physio, uses physical methods, such as massage and manipulation, to promote healing and wellbeing. It usually involves low-impact exercises such as:
- moderate weight-training
There is a lack of good quality medical research into the benefits of exercise for people with CMT. However, it is possible that some types of exercise are beneficial. For example:
- strengthening exercises, which focus on strength training, such as lifting weights, may help to improve muscle strength
- aerobic exercise, which raises your heart rate and makes you breathe harder, such as walking or swimming, may improve your fitness and your ability to function on a day-to-day basis
- posture and balance exercises, such as yoga, may also have benefits
Any exercise needs to be carefully planned as part of a personalised exercise programme. While a certain level of exercise may be safe, you risk making your symptoms worse if you do not follow proper instructions.
Speak to your GP or physiotherapist about arranging a suitable exercise programme.
Occupational therapy involves identifying problem areas in your everyday life, such as dressing yourself, then working out practical solutions.
Occupational therapy will be very useful if muscle weakness in your arms and hands makes it difficult for you to do day-to-day tasks, such as dressing or writing.
An occupational therapist will teach you how to use adaptive aids to compensate for your difficulties, such as clothing that has clasps instead of buttons, and magnetic tubes that allow you to pick up objects.
Orthoses are devices that are worn inside your shoes or on your legs to improve the strength and functionality of your limbs, or to correct your gait (the way you walk).
There are several different types of orthoses, including:
- insoles in your shoes
- custom-made shoes that support your ankles
- ankle or leg braces
- thumb splints that can improve your hand strength
In the most severe cases, someone with CMT may require a wheelchair. However, it is estimated that a wheelchair is necessary for less than 1 in 20 people.
There are two types of pain that are associated with CMT:
- joint and muscle pain - caused by the stresses that CMT places on your body
- neuropathic pain - caused by the damage to your nerves
Joint and muscle pain
Joint and muscle pain can usually be controlled by taking non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen.
Neuropathic pain may be treated with medicines that are known as tricyclic antidepressants (TCAs). As the name suggests, TCAs were originally designed to treat depression, but they have also successfully treated some cases of neuropathic pain.
Common side effects of TCAs include:
- dry mouth
- constipation (being unable to empty your bowels)
- problems passing urine
- slight blurring of vision
These side effects should ease after 7 to 10 days as your body gets used to the medication. Do not smoke cannabis when taking TCAs because it may cause a rapid heart beat
Alternatively, you may be prescribed an anti-convulsant medicine (a medicine that is often used to prevent seizures), such as carbamazepine, gabapentin or pregabalin. These are often used to treat other conditions that cause neuropathy because they calm down nerve impulses and help to relieve pain.
In some cases, anti-convulsants can cause several side effects, such as:
- nausea (feeling sick)
For full details of possible side effects, see the patient information leaflet that comes with your prescribed medication.
The treatment of CMT aims to lessen the effect the condition has on your everyday life. However, there are precautions that you should take - for example, certain medicines may need to be avoided. You may be given the following advice:
- avoid medicines that are known to cause nerve damage, such as vincristine (a medicine used to treat cancer)
- avoid caffeine (found in tea, coffee and cola) and nicotine (found in tobacco) if you have tremors (shaking), as they can make this worse
- avoid drinking too much alcohol as this has many health risks, which may be worse if you have CMT
- avoid becoming obese (very overweight) because this can make walking more difficult
Ask your MDT if they have specific lifestyle recommendations for you, as the risks may vary from person to person.
If CMT causes significant deformities in your feet that cause you pain, surgery may be needed to correct them. There are three main surgical techniques for correcting deformities. They are:
- plantar fascia release
These are described in more detail below.
An osteotomy is a surgical procedure that is used to correct severe flatness of the feet. An incision (cut) is made in your foot and the surgeon removes or repositions the bones in your foot in order to correct its shape.
After surgery, your foot (or feet) will need to be kept in plaster for several weeks until the bones have healed.
Arthrodesis can also be used to correct flat feet, as well as relieve joint pain and correct heel deformities. It involves fusing the three main joints in the back of your feet in order to strengthen your feet, correct their shape and relieve pain.
After surgery, your foot (or feet) will be placed in a cast (a hard covering that is usually made of plaster), and you will not be able to place any weight on them for six weeks. During this time, you will need to use crutches or a wheelchair.
Once you can put weight on your feet, you will need to wear the cast for another six weeks (12 weeks in total). However, it may take up to 10 months for you to fully recover from the operation.
Plantar fascia release
Plantar fascia release is a surgical procedure that is used to relieve the persistent heel pain caused by inflamed (red and swollen) tendons. Tendons are the white, fibrous cords that join bones to muscle.
During the procedure, part of the tendon is removed and the remaining tendon is repositioned and allowed to heal. Afterwards, you will need to wear a cast for three weeks, and you will not be able to put any weight on your feet during this time.
If you have curvature of the spine (scoliosis), you may need to wear a back brace to correct it. In more severe cases of scoliosis, surgery may be required.
If you or your partner has CMT and you want to have a child, you may be referred to a genetic counsellor.
A genetic counsellor is someone who specialises in helping people with genetic conditions who want to have children. They will be able to explain the exact risks of you passing CMT on to your child.
In some cases, it may be possible to test an unborn baby for CMT during the initial stages of pregnancy. If the test is positive, you will have to decide whether you wish to proceed with the pregnancy. The decision is for you and your partner to make. Nobody should pressure you into making a particular choice.
There is some promising research that may provide new ways of treating people with CMT. This research includes:
- using stem cells (cells that are at an early stage of development) to repair nerve damage
- using hormones (powerful chemicals) and gene therapy to slow the progression of the condition
Ascorbic acid (vitamin C) is currently being tested in a number of clinical trials (medical research that tests one type of treatment against another). It is thought that ascorbic acid may improve the neuropathy (nerve damage) that is caused by CMT.