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Charcot-Marie-Tooth Disease

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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
  • 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