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Symptoms/problems

It is important to remember that CMT is a highly variable condition, even between members of the same family; therefore it’s hard to say what problems may affect you. 

Fatigue is probably the only symptom common to all people with CMT and is a natural side effect of the extra effort required to perform daily activities.

Early symptoms

The first noticeable signs are often slight difficulty in walking because of problems picking up the feet.  The muscles that support the foot in a normal walking gait are among the first to be affected, and therefore the toes drop as the foot is lifted, causing a tendency to trip, and an awkward walking gait.

Children may have problems with apparent clumsiness, or lack of agility, even before any other noticeable symptoms.

Common symptoms

Many people with CMT have very highly arched feet (known medically as pes cavus) and this may be noticeable from a very early age.  This can often lead to instability of the foot and ankle, with twisting of the ankles becoming very common.   However it is also possible to have a very flat foot, which can also be a problem.

Curled or hammer toes are a very common symptom and can cause problems with shoes causing pain.

The legs can have a characteristic shape – known as the inverted champagne bottle – with the lower legs, below the knees, being very thin, and the thigh muscles retaining a normal shape and muscle bulk.

Symptoms can progress noticeably at the time of the growth spurt associated with puberty.

Some sensory loss and numbness is usual in both the arms and legs, but is rarely troublesome.  Rarely, this numbness can be severe, and it is easy then for individuals to injure themselves without knowing it.

Exceptionally cold hands and feet are also common, caused by poor circulation in the extremities.

Later symptoms

The hands and forearms tend to become affected as the disease progresses, and can lead to loss of fine motor control, dexterity and overall hand strength, making doing up buttons difficult and undoing jam-jars and bottles almost impossible. 

Pain is often a feature of CMT, and is usually a result of poor walking – an unbalanced foot and ankle leads to additional stress on the knees, hips, back and even shoulders and neck.   More rarely, the damaged nerves themselves cause pain, known as neuropathic pain, which is much more of a problem to bring under control.

It is also possible to have some tremor in both the arms and legs.  Severe tremor and CMT can be known as the Roussy-Levy Syndrome.

Later in life, there can be increased difficulty in walking, and aids may be needed, such as orthoses (splints), walking sticks, and wheelchairs, although it is rare for someone with CMT to become a permanent wheelchair user.  Many people use wheelchairs for occasional use, to relieve the pain and effort of walking.

Very rarely noticed

People with CMT can have a severe curve of the spine (scoliosis).

Speech and swallowing difficulties are possible.

The phrenic nerve which controls the diaphragm can also be affected in very rare cases, and this can lead to some breathing difficulties, particularly when lying flat in bed at night. 

 

 

 

 

 


Date reviewed:  02/07/2013

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