Neurological Examination : Charcot Marie Tooth Disease / CMT

Examine the upper and lower limbs of this patient and arrive at a diagnosis.

First greet the examiner and confirm your identity.

Read the scenario carefully and try to find out exactly what is required of you as well as look for any obvious clues in the history.

Now  Greet the patient and introduce your self and explain the purpose of todays”s consultation that you want to examine the patient to arrive at a diagnosis and ask if patient is comfortable and ensure you will maintain his comfort and dignity during the examination and take his consent / permission for examination and proceed.

Inspection :

Look at face of patients for any obvious clinical findings related to neurological disorders eg

Frontal balding : Myotonic dystrophy

Mask like facies in Parkinsonism

Facial twitching

Any signs of facial nerve palsy etc

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Neck:

Any scar marks on back / nape of neck and back.

Any wasting of muscles of shoulder girdle ( Fascio scapula muscular dystrophy )  or any generalized wasting and fasciculations etc

Upper limbs and lower limbs

Now complete the routine of examining Gait, Motor system  examination of upper and lower limbs including power ,and Sensory system examination ( Soft and pin sensations, Vibration and proprioception )and reflexes( Biceps,triceps,brachioradialis,plantars,knee and ankle jerks).

Any wasting of muscles of upper limbs and any deformities.

Any wasting or deformities of muscles of lower limbs.

In this case which is a patient of Charcot Marie Tooth Disease,following would be found :

Motor system examination : Muscle weakness in their feet, ankles, legs and hands

Gait : An awkward way of walking

Feet : Highly arched or very flat feet

Sensations : numbness in the feet, arms and hands

Main symptoms of CMT

The main symptoms of CMT usually appear between the ages of 5 and 15, although they sometimes do not develop until well into middle age or later.

Some of the main symptoms of CMT include:

Muscle weakness in the feet, ankles and legs at first

Feet that are very highly arched, which can make the ankle unstable, or having very flat feet

Curled toes (hammer toes)

Gait

An awkward or high step and difficulty using the ankle muscles to lift the foot, which makes walking more difficult

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Sensory system examination

A lack of sensation in the arms and feet

Cold hands and feet caused by poor circulation

Wasting of the muscles in the lower legs, causing legs to have a distinctive "upside-down champagne bottle" shape

Feeling tired a lot of the time as a result of the extra effort it takes to move around

Some people also develop additional problems, such as:

Uncontrollable shaking (tremor)

Abnormal curvature of the spine (scoliosis)

Problems speaking, breathing or swallowing (dysphagia) – these symptoms are rare in CMT

Later symptoms of CMT

As CMT progresses, the muscle weakness and lack of sensation gets worse and starts to affect hands and arms more.

This can lead to problems with both manual dexterity and hand strength, making tasks like doing up the buttons of a shirt very difficult.

Persistent problems with walking and posture can put excessive strain on  body, which often leads to muscle and joint pain.

Less commonly, damaged nerves may also cause pain, known as neuropathic pain.

Problems with mobility and walking tend to get worse with age. It's uncommon to lose the ability to walk completely, but older people with CMT often need a walking aid to get around.