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Charcot-Marie-Tooth

Charcot-Marie-Tooth. Chris Campbell & Austin Webster. Marie’s Tooth??. Charcot Marie Tooth. Charcot-Marie-Tooth. One of the most common inherited neurological conditions

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Charcot-Marie-Tooth

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  1. Charcot-Marie-Tooth Chris Campbell & Austin Webster

  2. Marie’s Tooth??

  3. Charcot Marie Tooth

  4. Charcot-Marie-Tooth One of the most common inherited neurological conditions Mostly dominantly inherited, but in rare cases can have spontaneous mutation (where neither parent has CMT) Prevalence • 2.8 million people world-wide • 1 in 2,500 people in U.S. • All races and genders susceptible

  5. CMT cont. Onset • Adolescence or early adulthood • Occasionally in mid-adulthood Severity • Large variations (even in the same families) • Gradual/slow progressive worsening of Sx’s

  6. Impact of CMT Changes peripheral nerves and thus is a neuropathy Affects motor and sensory nerves in PNS No changes to brain function or life expectancy

  7. Cause of CMT Genetic mutation Proteins needed for myelination can’t be produced • Depending on type, proteins may be needed for axon Re-myelination attempt by immature Schwann cells • Creates bulbous formation

  8. Diagnosis Nerve conduction velocity can be slowed by half Nerve biopsy shows positive hypertrophic endoneurial changes as “onion bulb” as the nerve becomes bigger as it tries to create more myelin. Decreased DTRs Bilateral, symmetrical muscle weakness

  9. Signs and Sx’s Most common feature: LE bilateral symmetrical motor signs • Weakness, atrophy, and diminished DTR’s of foot and lower legs • Dorsiflexors and Evertors • Balance, tripping, falling • Foot intrinsic weakness/wasting • Pes cavus (high arches) • Hammertoes • “Inverted champagne bottle”

  10. Signs and Sx’s Palpable bulbous peripheral nerves LE sensation (may be affected) • Numbness • Tingling • Burning • Loss of proprioception Later stages - can have same effects on distal UE

  11. Case Study Mark: 14 y/o male, no previous orthotic tx. Steppage gait with foot slap and knee hyperextension in Tst. MMTs (Bilateral): hip ext., hip flexion, knee flexors, DF, were Poor. Knee extensors and PF were fair Polypropylene AFO with plantar stops with high medial trim lines to prevent forefoot adduction. High arch with inversion

  12. Orthotic Design for Mark Adjustable plantarflexion stop Medial trim to prevent forefoot adduction Good Shock attenuation Heel post to distribute forces equally on the whole foot Alignment- ankle set in neutral DF Overall: wide variability for orthotics among CMT pts.

  13. CMT gait video https://www.youtube.com/watch?v=ZWST37RfmyI

  14. Common CMT Gait Deviations Especially weak Dorsiflexors and Everters but PF can be weak too 3 main problems in gait cycle: • Foot flat/forefoot IC • Poor eccentric control of ankle supination in Tst (re-supination occurs too fast) • Ankle wobble in Tst due to poor eccentric control of PF Compensations: shorter stride length, ER to achieve some pronation, steppage pattern

  15. Treatment Overall: Minimize deformity and maximize function Pharmocologic Mutations targeting the genetic mutation

  16. Conclusion CMT affects motor and sensory nerves of the PNS LE Bilateral, symmetrical muscle weakness is most common Orthotic treatment may correct deformities and enhance function Pt. education is key for preventing contractures, ulcers, knee dislocations, and overall maximizing function

  17. Resources American Academy of Orthotists & Prosthetists. Orthotic Management of Charcot-Marie Tooth. http://www.oandp.org/jpo/library/1994_04_108.asp. Accessed July 14, 2016. http://www.cmtausa.org/understanding-cmt/what-is-cmt/ http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2000;volume=48;issue=1;spage=49;epage=55;aulast=Kuruvilla http://www.oandp.org/jpo/library/1994_04_108.asp Goodman, C. C., Boissonnault, W. G., & Fuller, K. S. (2014). Pathology: Implications for the physical therapist. Philadelphia: Saunders.

  18. Questions?? + =

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