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Charcot-Marie-Tooth Disease. Jessica Tzeng. History. Named after Jean-Martin Charcot, Pierre Marie (Charcot ’ s pupil), and Howard Henry Tooth  Not a tooth disease. What is it?. Also known as Peroneal Muscular Atrophy or Hereditary Motor and Sensory Neuropathy

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  • Named after Jean-Martin Charcot, Pierre Marie (Charcot’s pupil), and Howard Henry Tooth  Not a tooth disease

What is it
What is it?

  • Also known as Peroneal Muscular Atrophy or Hereditary Motor and Sensory Neuropathy

  • Group of disorders passed down through families that affect the nerves outside the brain and spine (peripheral nerves)

  • Damage or destruction of the myelin sheath around nerve fibers

  • Progressive loss of muscle tissue and touch sensation across various parts of your body


  • Symptoms usually begin in late childhood or early adulthood

  • Foot drop (inability to hold foot horizontal)

  • Claw toe (curled toes)

  • Weakness in the hands and forearms

  • Loss of touch sensation in the feet, ankles, legs, hands, wrists and arms

  • On and off painful spasmodic muscular contractions

  • High arched feet (pes cavus)

  • Scoliosis (spine curves from side to side)

  • Numbness in food or leg

  • “Slapping” gait (feet hit the floor hard when walking)


  • Hereditary

  • 70-80% of the time: duplication of a large region on the short arm of chromosome 17 that includes the gene PMP22

  • Mutations that cause defects in neuronal proteins (usually mutations that affect the myelin sheath, some affect axon)


  • Mutations that affect MFN2 (codes for mitochondrial protein) mitochondria travel down axons, mutations cause mitochondria to form large clusters  can’t travel down axon synapse doesn’t function

  • Demyelinating Schwann cells (cells with myelin sheaths wrapped around) abnormal axon structure and function  axon degeneration or malfunction of axons


  • Primary Demyelinating Neuropathies

    • CMT1: Demyelinating type

      • Affects 30% of CMT patients

      • Severe demyelination  impairs nerve conduction velocity

    • CMT3: Dejerine-Sottas Disease

      • Very rare

      • Does not impair nerve conduction velocity

      • Progressive muscle wasting

    • CMT4: Spinal type

      • Autosomal recessive

      • Typical CMT phenotypes


  • Primary Axonal Neuropathies (CMT2)

    • CMT2: Axonal type

      • Affects 20-40% of CMT patients

      • Mainly affects axons

      • Tends to affect lower extremities more than upper extremities

      • Average nerve conduction velocity is usually not affected

      • Symptoms less severe than CMT1

  • CMTX

    • X-linked inheritance

    • Affects 10-20% of CMT patients

    • Affects nerve conduction velocity

    • Includes all CMT forms with x-linked inheritance

  • Diagnosis

    • Symptoms

    • Electromyography(measurement of speed of nerve impulses)

    • Biopsy of the nerve

    • DNA testing  can give definite diagnosis

    • Not all genetic markers of CMT are known


    • CMT gradually worsens with age

      • Some parts of body may become numb

      • May cause disability

      • Progressive inability to walk

      • Progressive weakness

      • Injury to areas that have decreased sensation


    • Genetic Counseling and Testing

      • If there is a strong family history of the disorder, there is a high chance of having the disease

      • Knowing whether or not you have the disease can help prevent further muscle deterioration and help alleviate the symptoms


    • No known cure

    • Orthopedic surgery or equipment (such as braces or orthopedic shoes) can make it easier to walk

    • Physical and occupational therapy may maintain muscle strength and improve independent functioning