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• Descriptions since the 1800s
• 1886 Jean Martin Charcot and his student Pierre Marie (France) and Howard Tooth (England)
• Prevalence as high as 1/2500
• Autosomal dominant inheritance most common– 36 / 100,000
• Males > Females
• Rare in African Americans
• FH of “thin legs / high arches”
www.baillement.com
• First manifests around age 30 with slow progression
• 40 / 100,000 variants of CMT
• Motor and Sensory phenotypic variations
• Most common autosomal dominant inheritance– Overexpression of PMP22
– More prominent clinical manifestations
– Type 1b associated with peroneal muscular atrophy (MPZ mutation – myelin protein zero mediated)
Carter et al. Vanderbilt University
Peroneus Brevis ◦ Primary everter of the foot
◦ At a functional disadvantage when foot is in varus – will always appear weak on MMT
Peroneus Longus – ◦ One of the last muscles to
atrophy or weaken
◦ Will plantarflex first ray; strength and function is maintained until middle to late stages of the disease process
Pictures reprinted from www.deeptissue.com
• Sabir et al. 1984 • Longest axons of sciatic nerve affected first
• Muscles with the smallest bulk are the first to show atrophy (the intrinsic muscles, followed by peroneus tertius)
• Atrophy continues to anterior leg (EDL, EHL, TA)
• Peroneus Brevis atrophy then overpowers Tibialis Posterior
• Fenton et al 1984 • Peroneus Longus is weakened in 42% of cases • Peroneus Brevis weakened in 81% of cases• Tibialis Posterior weakened in 20% of cases• Tibialis Anterior weakened in 81% of cases• EDL (83%) / EHL (91%)
• Severe cases may involve the Gastroc-Soleal complex
Reprint from Linda J. Vorvick, MD, University of Washington School of Medicine
Palliative Care for callus/corn/keratoderma
Professional shoe fitting/ education and modification
AFO/bracing fabricationPhysical therapySurgical intervention for
recalcitrant deformityOrthotics
Complaint:
• Instability / “Clumsy walking”• Discomfort • Fatigue in ankles / frequent
sprains• Problems with shoe gear• Metatarsalgia (pain in forefoot)• Ulcerations
Brewerton et al. “Idiopathic” pes cavus an investigation into its etiology. BMJ 1963
2/3 of all symptomatic high arch feet have an underlying neurologic
problem
Musculoskeletal◦ Champagne glass / Stork leg appearance◦ Tripod – rigid forefoot valgus ◦ Digital contractures (with retrograde buckling)
• Gait Assessment – Pelvic elevation / pelvic shift – High Steppage / Marionette Gait (Erector spinae /
abdominal muscles)– Shuffling of Feet– Drop foot
Neurologic ◦ Loss / Diminished Achilles tendon reflex◦ Loss / Diminished Patellar tendon reflex◦ Decreased vibratory sensation and proprioception◦ Hypoesthesia (stocking – glove distribution) ◦ Manual Muscle Test
Integument◦ Evaluate for cutaneous compromise
McGlamry’s Textbook of Foot and Ankle Surgery
Reprint from National Institute of Neurologic Disorders and Stroke
Del Porto et al. Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies. J Clin. Neurosci. 2010
• Indicated for: • Mechanically controllable deformity • Slowly progressive deformity• Prevent falling and ankle sprains
• Extra depth shoes with accommodative insoles / orthotics +/- metatarsal padding
• Decreased inversion 2/2 plantarflexed 1st ray with custom orthotic
• Molded Ankle Foot Orthoses for drop foot +/- double upright brace with spring
• Strengthening / stretching programs designed to decrease contracture from secondary muscle imbalance .• i.e.. Picking up marbles, towel rolling, extensor
strengthening exercises
• Suboptimal results reported for non surgical intervention on severe cavus, cavovarus, or Calcaneovarus deformity
Goal: Maintain dorsiflexion and compensate for muscle imbalance
Custom orthoses may be inadequate to compensate for progressive nature of disease
Rubin Institute of Advanced Orthopedics Study (2010) Lamm et al.
› A plantigrade foot must be established within the device
› Contractures should be addressed prior
Photo courtesy of Clinical Prosthetics + Orthotics
• Goals:• All fixed deformities must be corrected
• Muscle imbalance and function must be restored (tendon transfers if indicated)
• Prevent recurrence of deformity
• Decision: • Patient directed goals• Flexible vs. Rigid deformity• Age• Available muscle inventory (MOTOR
STATUS)• Is compensation present• Where is the APEX of the deformity • SENSORY STATUS • Prognosis
Reprint from www.orthobullets.com
• Procedures performed during lack of progression have been shown to provide better outcomes
• Digital Deformity Correction• Metatarsal Deformity
• Midfoot Deformity
• Rearfoot Deformity
• Dropfoot Deformity
• Ankle Equinus Deformity
Peroneus Longus transfer◦ Goal decrease PF force on first ray◦ Split to Tibialis Anterior vs. Suture to
Peroneus Brevis
Posterior Tibial tendon transfer◦ Goal to increase DF force and
decreasing inversion strength ◦ Decreases progression of the disease
Hibbs tendosuspension◦ EDL transfer not typically helpful
secondary to progressive disorder
Reprinted from Thomas Chang: Master Techniques in Podiatric Surgery: Foot and Ankle
Digital deformity (Flexible vs. Rigid) Goals:
› Stabilization of all digits› Arthrodesis (Fusion) of PIPJ
Arthroplasty of 5th PIPJ › DFWO to 1st metatarsal› Optional Girdlestone Taylor Procedure
1st IPJ fusion in conjunction with Jones Tenosuspension not effective given progressive nature of disease
(Extensor tendon weakness) McGlamry’s Textbook of Foot and Ankle Surgery
Japas “V” vs. Cole midfoot osteotomy
Younger et al. J Am Acad Orthop Surg, Vol. 13, No. 5, September 2005, 302-315McGlamry’s Textbook of Foot and Ankle Surgery
Dwyer calcaneal osteotomy – lateral closing wedge osteotomy
Scwend et al. J Am Acad Orthop Surg, Vol. 11, No. 3, May/June 2003, 201-211McGlamry’s Textbook of Foot and Ankle Surgery
Triple Arthrodesis Reconstruction
Reprinted from Thomas Chang: Master Techniques in Podiatric Surgery: Foot and Ankle
Progressive disease with phenotypic variation
Important to weigh physical findings with patient goals for effective treatment strategy
Structural deformity will guide prognosis for surgical vs. conservative therapy
Podiatric physicians in collaboration with primary care physicians, neurologists, physical therapists / physical medicine & rehabilitation specialists, and genetic counselors are crucial to the interdisciplinary approach to improvement in patient outcomes.
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