Charcot-Marie-Tooth

Charcot-Marie-Tooth disease (CMT)

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CMT is a progressive, inherited condition affecting the motor and sensory peripheral nerves. It affects the nerves controlling movement of the hands and lower legs, as well as the muscles of the feet, hands and forearms. Many people with CMT also experience a loss of sensation in their hands and feet.

The condition is incurable but the following interventions can help people to deal with the daily challenges of living with CMT:

  • physiotherapy
  • orthotics
  • orthopaedic surgery
  • occupational therapy
  • pain management
  • genetic counselling

Respiratory

Rarely, the diaphragm can become affected, leading to breathing difficulties, especially at night. Sleep apnoea (significant pauses in breathing or shallow, infrequent breathing during sleep) is commonly experienced by people with CMT.

Medication and anaesthetic precautions

It is important that medical practitioners are aware of a diagnosis of CMT when prescribing new medication. Anaesthetics should not cause a particular problem, providing the correct protocol for people with neuromuscular conditions is followed.

Symptoms

Balance is affected owing to loss of sensation in the lower legs and weakness of the ankle muscles. People with CMT can find it difficult to stand still or to climb stairs and may often fall over a lot.

Weak and numb hands cause difficulties with manual tasks, such as holding a pen, doing up buttons, or opening jars and bottles.

Pain is a very common. It can be caused by altered loading of the joints, because of muscle weakness, or neuropathic pain, owing to damage to the pain nerve endings.

Some people with CMT experience excessive fatigue that can affect how much they can manage to do, day to day.

The main symptoms, owing to the weakness and sensory loss, are: weak ankle muscles, changes in the foot shape, foot drop, and weak wrists, fingers and thumbs.

Weakened muscles in the legs restrict how well and how far people can walk. Unsteady walking can cause people to appear drunk.

People with CMT may need to use walking aids (sticks or walking frames) as the condition progresses. It is very rare for people with CMT to lose the ability to walk completely, and some find it useful to occasionally use a wheelchair for outdoor use.