CharcotMarieTooth Chris Campbell Austin Webster Maries Tooth Charcot

Charcot-Marie-Tooth Chris Campbell & Austin Webster

Marie’s Tooth? ?

Charcot Marie Tooth

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

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

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

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

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

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”

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

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

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.

CMT gait video https: //www. youtube. com/watch? v=ZWST 37 Rfmy. I

Common CMT Gait Deviations Especially weak Dorsiflexors and Everters but PF can be weak too 3 main problems in gait cycle: 1. Foot flat/forefoot IC 2. Poor eccentric control of ankle supination in Tst (re-supination occurs too fast) 3. Ankle wobble in Tst due to poor eccentric control of PF Compensations: shorter stride length, ER to achieve some pronation, steppage pattern

Treatment Overall: Minimize deformity and maximize function Pharmocologic Mutations targeting the genetic mutation Impairments Treatment Contracture Prevention ROM, stretching Gait: foot flat, poor eccentric supination Orthotics Risk of ulcers due to sensation deficits Education on skin care Balance Deficits Balance Training ADLs Functional training: gait, sit-to-stand, etc Muscle weakness Strengthening of little benefit

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

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=00283886; 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.

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