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Charcot-Marie-Tooth Disease

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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Charcot-Marie-Tooth Disease

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  1. Charcot-Marie-Tooth Disease Jessica Tzeng

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

  3. 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

  4. Symptoms • 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)

  5. Causes • 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)

  6. Causes • 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

  7. Types • 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

  8. Types • 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

  9. Inheritance

  10. 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

  11. Complications • 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

  12. Prevention • 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

  13. Treatment • 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

  14. Bibliography • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001741/#adam_000727.disease.causes • http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm • http://www.help4cmt.com/articles/?id=50&pn=new-research-provides-more-information-on-demyelination • http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease

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