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Charcot Marie Tooth Disease

Charcot-Marie-Tooth disease, or CMT, is a group of inherited neurological disorders that affect the peripheral nerves, causing peripheral neuropathy.  Peripheral nerves are the nerves that supply the muscles and sensation in the legs, feet and arms and hands.
There are many different types of CMT, leading to different presentations of the disease in different people.  CMT can occur at any age, some will present in early childhood, adolescence or early adulthood.
Charcot Marie Tooth disease is named after the three doctors who first discovered it in 1886 – Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

What causes Charcot-Marie-Tooth disease?

CMT is an inherited disorder, this means that it is passed down from one generation to the next.  CMT is not contagious and is not caused by our environment or lifestyle.  There are more than 50 types of CMT, with no known cure at this time.
The CMT gene produces proteins that are essential to the structure and function of the peripheral nerves.  When the mutated gene is unable to produce these vital proteins, the affected nerves slowly degenerate and lose the ability to control   the muscles, causing muscle weakness (in feet, legs, arms or hands) and a loss of normal skin sensation.

What are the symptoms of Charcot-Marie-Tooth disease?

The nerves in the legs and arms, which are the longest, are affected first. Nerve fibers that create movement (motor nerves) and nerve fibers that transmit sensations (sensory nerves) are both affected. Because both nerve types are affected, CMT causes weakness and numbness that usually starts in the feet and ankles.
Symptoms usually begin in adolescence or early adulthood.  The symptoms can vary greatly among individuals with the progression of symptoms being gradual over time.  They may include:

  • Weakness of the foot and lower leg muscles
  • Foot deformity  – very high arched feet, hammer toes
  • Foot drop – inability to raise the forefoot to clear the ground, resulting in frequent tripping or falls
  • Corns and callus may develop on the feet due to the foot deformities
  • Loss of muscle bulk in the lower legs, leading to thin calves or ‘stork legs’
  • Numbness in the feet
  • Difficulty with balance
  • Fatigue, pain and muscle cramps
  • Joint stiffness

Later, similar symptoms also may appear in the arms and hands.

How is Charcot Marie Tooth disease diagnosed?

If your family has a history of CMT and your child has developed some signs and symptoms consistent with CMT, your family doctor will refer you to a specialist physician, called a neurologist, for further investigation.   The neurologist may request electodiagnostic tests (eg. nerve conduction studies, EMG) and genetic tests to establish the diagnosis of CMT.

If you are seeing your podiatrist about foot problems or gait disturbances related to CMT in your child, we will perform a physical examination including a gait analysis.  The podiatric assessment will include:

  • foot posture assessment
  • neurological screening for reflexes, sensation, muscle tone
  • joint flexibility (or range of motion)
  • biomechanical assessment of the foot, ankle and leg
  • gait anaylsis
  • lower limb muscle strength and balance
  • footwear assessment
  • skin assessment for pressure lesions (corns, callus etc)

How is Charcot Marie Tooth Disease treated?

There are no known treatments that will stop or slow down the progression of CMT, although research continues in this area.

Depending on your child’s foot problems or gait disturbances your podiatrist may consider some of the following possible treatment options:

  • Custom foot orthoses to help slow down the development or progression of foot deformities
  • Ankle-foot splints (eg. Richie brace) to assist with foot drop, reduce the risk of falls and tripping, improve balance, mobility and confidence
  • Footwear advice
  • Stretching and joint mobilization exercises that may prevent or reduce joint stiffness and deformities in the feet and ankles
  • Low impact aerobic exercise to improve stamina and increase endurance
  • Assistance with callus removal and toenail care

If you, or a family member, has CMT and you are concerned about your child’s gait, mobility or foot posture, don’t hesitate to consult with our experienced paediatric Podiatrists for a comprehensive assessment, treatment and professional advice.

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