• 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.

1. Berciano J, Gallardo E, Garcıa A, Pelayo-Negro AL, Infante G, Combarros O. New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A duplication. J Neurol 2011

2. Brewerton DA, Sandifer PH, Sweetnam DR. Br Med J. 1963 Sep 14;2(5358):659-613. Burns J, Ouvrier RA, Yiu EM, et al. Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a

multicentre, randomized, double blind, placebo-controlled trial. Lancet Neurol 2009; 8: 1103. 4. Burns J, Ryan MM, Ouvrier RA. Evolution of Foot and Ankle Manifestations in Children with CMT1A. Muscle Nerve 39:

158 –166, 20095. Burns J, Scheinberg A, Ryan MM, Ouvrier RA. Randomized Trial of Botulinum Toxin to Prevent Pes Cavus Progression in

Pediatric Charcot-Marie-Tooth Type 1A. Muscle and Nerve. 262 -7, 20106. Chetlin R, Gutmann L, Tarnopolsky M, Ullrich I, Yeater, R. Resistance Training Effectiveness in Patients with Charcot-

Marie –Tooth Disease: Recommendations for Exercise Prescription; Arch Phys Med Rehabil 2004; 85: 1217-12227. Croban et al. CMT Facts IV. Treatment of Familial Neuropathies. Vol 4. 1998.8. Del Porto LA, Nicholson GA, Ketheswaren P. Correlation between muscle atrophy on MRI and manual strength testing

in hereditary neuropathies. Journal of Clinical Neuroscience 17 874–878, 20109. Duval A, Kalempokas K, Penicaud A, Guiochon A, Mantel E, Bachmeyer C. Neuropathic leg ulcer indicating late adult-

onset of Charcot-Marie-Tooth disease. J Am Acad Dermatol (64); 1215-1216, 2011. 10. Lupski et al. Finding CMT gene ends a quest and begins a new era. Science Med. March 2010.11. Guyton, G. Orthopaedic Aspects of Charcot-Marie-Tooth Disease. Foot and Ankle International. Vol 27. 2006; 1003-10.12. Hewitt SM, Tagoe M. Surgical Management of Pes Cavus Deformity with an Underlying Neurological Disorder: A Case

Presentation. JFAS (50) 235–240, 2011 13. McGlamry’s Comprehensive Textbook of Foot and Ankle Surgery. Third Ed. Section 5: Chapter 34 Charcot- Marie-

Tooth Disease. 2001; 1071-108914. Menotti F, Felici F, Damiani A, Mangiola F, Vannicelli R, Macaluso A. Charcot-Marie Tooth 1A patients with a higher

energy cost of walking than healthy individuals; Neuromuscular Disorders 2011; 21:52-57315. Micaleff J, Attarian S, Dubourg O, et al. Effect of ascorbic acid in patients with Charcot Marie Tooth disease type 1A: a

multicentre, randomized, double blind, placebo-controlled trial. Lancet Neurol 2009; 8:110316. Mondelli M. Some considerations on atypical cases of Charcot-Marie-Tooth disease and use of genetic testing in

idiopathic polyneuropathies. Clinical Neurology and Neurosurgery 112 (2010) 745–74617. Oatis Carol. Charcot-Marie Tooth Disorders: Pathophysiology, Molecular Genetics and Therapy. John Wiley & Sons, Inc.

199018. Ramcharitar SI: Lower Extremity Manifestations of Neuromuscular Diseases. Clinics of Podiatric Medicine & Surgery,

15: 722-724, 1998.19. Reilly M, Murphy S, Laura M. Charcot-Marie-Tooth Disease. Journal of the Peripheral Nervous System 2011; 16:1-1420. Sreda MW, Meyer zu Horste G, Suter U, et al. Therapeutic administration of progesterone antagonist in a model of

Charcot-Marie-Tooth disease (CMT-1A). Nat Med 2003; 9:153321. Van der Linden MH, Van der Linden SC, A, Hendricks HT, Van Engelen BGM, Geurts ACH. Postural instability in

Charcot-Marie-Tooth type 1A patients is strongly associated with reducedsomatosensation. Gait & Posture 31 (2010) 483–488

22. Walsh B, Fontera W. Brace modification improves aerobic performance in Charcot-Marie Tooth disease: A single-subject design. AM J Phys Med Rehabil 2001;80:578-582.

23. Ward et al. “Long-Term Results of Reconstruction for Treatment of a Flexible Cavovarus Foot in CMT disease.” The Journal of Bone and Joint Surgery. 90:2631-42. 2008.

24. Westmore et al. “Long-Term Results of Triple Arthrodesis in CMT disease.” The Journal of Bone and Joint Surgery. 71-A No 3. 1989.