Charcot Marie Tooth Disease is a group of disorders that is hereditary affecting the sensory and the motor nerves leading to the muscle weakness, atrophy and sensory loss. The nerves are not getting enough protein to function properly by sending electrical impulses because of the impairment in the peripheral nerve axon that is located outside the brain and spine. This can be an present at birth one in an X-linked mode, autosomal dominant or autosomal recessive method of inheritance, with this kind of disease an increased risk for passing on the genes that cause the condition when they start a family of their own. Alternative name for this disease are; Progressive Neuropathic Muscular Atrophy, Hereditary Peroneal Nerve Dysfunction, Hereditary Motor and Sensory Neuropathy.

Causes of Charcot Marie Tooth Disease

The precise cause of this ailment is not known but it is claimed that it is a inherited disorder, this is origin by metamorphosis in genes that generate proteins that help in the function and structure of peripheral axon or disease involves damage to the covering which is the myelin sheath around nerve fibers and is caused also by the slow degeneration of the nerves. The deterioration of the sensory nerves outcomed in a decreased ability to feel cold, heat and pain


It start between mid- childhood and early adulthood

  1. Numbness and pain of the legs and feet
  2. Decreased sensation in the legs and feet
  3. Frequent tripping or falling
  4. Slapping gait
  5. Foot drop which is the inability of the muscle to hold food in horizontal manner
  6. Foot deformity of high foot arches
  7. Leg muscle atrophy leading to skinny muscle
  8. Weakness can be felt in hips, legs or feet.
  9. Late symptom may appear on arms and hands including a claw-like hand deformity


Until now, there is no known cure for this disease that is claimed to be genetic disorder, because it cannot be prevented or cure but treatment can reduce symptoms and make the life of the person suffering from this easy. Orthopedic surgery and the use of braces or orthopedic shoes in maintaining muscle strength and improve independent functioning with collaboration of a physical and occupational therapy is of great help. Genetic counseling as a form of treatment helping families understand information about genetic disorder that includes; explaining pattern of inheritance, recurrences of risks, natural history of disease and genetic testing options.


Foot drop, claw hand, Charcot Marie Tooth Disease
Deformities seen in Charcot Marie Tooth Disease

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Pathophysiology in Charcot Marie Tooth Disease

Peripheral nerve cells affected in CMT

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Slowly by slowly the disease is getting worse. Some parts of the body like foot and hand may become numb and weak and pain can even range from mild to severe leading to disability especially a walking problem that making the person disable lifelong. Mental function and longevity usually are not affected.


  1. Progressive inability to walk
  2. Progressive weakness
  3. Injury to areas of the body that have decreased sensation

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