Charcot Marie tooth Disease | CMT

Why is it called Charcot-Marie-Tooth disease?

Charcot Marie tooth disease was named on the three scientists who discovered it. Jeans Charcot, Pierre Marie, Howard Henry tooth.

Charcot Marie tooth

What is Charcot Marie tooth Disease?

Charcot tooth marie disease is a progressive hereditary disorder. It is inherited from parents to offspring. Peripheral nerve damage occurs as the peripheral nerve which transmit signals from brain and spinal cord gets damage. Both motor and sensory loss occurs. CMT worsens with age. It is also known as motor and sensory neuropathy.

What is Peripheral neuropathy?

Peripheral neuropathy occurs after birth might be after 2 years of birth, 5 years, 7 years later or so on. Child was having normal body functions. Normal milestones but sudden regression of milestones occurs. Loss of movements occur. Milestone regression is major symptom of neuropathy. Peripheral neuropathy is of two types, motor and sensory. CMT disease is mixed peripheral neuropathy containing both sensory and motor loss. Each neuropath have different pattern of progression. Is Charcot-Marie-Tooth progressive? CMT progresses from distal to proximal. It is a progressive hereditary disease’

Pattern of CMT:

CMT is a lower motor neuron lesion. CMT is a demylinated motor neuron lesion in which nerve damage occurs. In lower motor neuron lesion nerve gets damage on its path. So communication is disrupted. It is a progressive disease. Damage occurs from distal to proximal end. Affects nerves and muscles in feet, legs, hand, arms and shoulder.

Symptoms of Charcot Marie tooth:

People with CMT experience sensory nerve fibers damage. So they feel Burning and tingling sensation in affected part, sometimes pain or discomfort, Small weaker muscles, loss of sensation, muscle contraction lost, difficulty in walking, foot drop, hammer toe, high arches, peripheral muscle wasting and in rare cases phrenic nerve gets damage which supplies diaphragm muscles so breathing gets impaired. Common physiotherapeutic symptoms which are present at the time when patient visits us are discussed below:

How does Charcot-Marie-Tooth disease affect the body?

  • Intrinsic foot muscle damage so high arches develop.
  • Bilateral foot drop and dorsiflexion disappears.
  • Atrophy occurs due to the weakness of calf muscles
  • Stork legs appearance; Lower legs thin and a little thick above
  • Gower sign positive due to weak Quadricep and hip flexors.
  • Claw hand due to weakness of finger muscles.
  • Loss of fine movements.
  • Sensory loss: Sensation and proprioception loss.
  • Pain, temperature sense loss
  • Impaired sensation

Charcot Marie tooth Causes:

  • Gene mutation
  • Inherited disease
  • Damage to nerve due to mutation
  • Damage of gene which was responsible for development of peripheral nerve

Diagnosis of CMT:

Diagnostic test for CMT:

Following diagnostic tests can be performed for confirmation of CMT:

  • Nerve conduction study
  • Electromyogram
  • Nerve biopsy
  • Genetic testing

Risk Factors for CMT:

  • Diabetic patients
  • Peripheral neuropathy patients

Charcot Foot appearance:

Red, swollen foot. skin temperature in the affected area is high, high arches.

Charcot Marie tooth Treatment:

Physiotherapy for Charcot Marie tooth disease:

Physiotherapy can not cure CMT but can stop the symptoms to get worsen over time.

Charcot Marie tooth
  • Casting
  • Braces
  • Active exercises
  • Active resisted exercises
  • Ankle pump
  • ROM of joints
  • SLR (straight leg raise)
  • Resisted adduction
  • Resisted abduction
  • Bridging
  • Abdominal coactivation

CMT Treatment for Motor Stimulation:

  • Transcutaneous electrical stimulation
  • Electrical muscle stimulation
  • Hot pack in case of contractures
  • Cycling at initial stage

Patient’s with Charcot Marie tooth disease are not eligible for athletic activities. As hands and feet are affected. Neuropathy and myopathy are progressive diseases. Physical therapy can help prevent symptoms getting worse over time. Physical therapy maintains muscle bulk and flexibility to some extent. In CMT patients death occurs due to some secondary cause. As breathing muscles are affected so respiratory arrest may occur. There is decreased immunity in CMT patients so chest infections are common and ultimately death occurs.

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