1 / 14

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

beate
Download Presentation

Charcot-Marie-Tooth Disease

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related