Transcript CMTpresentationHO92011

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Descriptions since the 1800s
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1886 Jean Martin Charcot and his
student Pierre Marie (France) and
Howard Tooth (England)
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Prevalence as high as 1/2500
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Autosomal dominant inheritance most
common
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36 / 100,000
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Males > Females
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Rare in African Americans
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FH of “thin legs / high arches”
www.baillement.com
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First manifests around age 30 with slow
progression
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40 / 100,000 variants of CMT
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Motor and Sensory phenotypic
variations
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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
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Peroneus Brevis
◦ Primary everter of the foot
◦ At a functional disadvantage
when foot is in varus – will
always appear weak on MMT
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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
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Sabir et al. 1984
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Longest axons of sciatic nerve affected first
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Muscles with the smallest bulk are the first to show
atrophy (the intrinsic muscles, followed by peroneus
tertius)
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Atrophy continues to anterior leg (EDL, EHL, TA)
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Peroneus Brevis atrophy then overpowers Tibialis
Posterior
Fenton et al 1984
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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
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Palliative Care for
callus/corn/keratoderma
Professional shoe fitting/
education and
modification
AFO/bracing fabrication
Physical therapy
Surgical intervention for
recalcitrant deformity
Orthotics
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
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Musculoskeletal
◦ Champagne glass / Stork leg appearance
◦ Tripod – rigid forefoot valgus
◦ Digital contractures (with retrograde buckling)
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Gait Assessment
– Pelvic elevation / pelvic shift
– High Steppage / Marionette Gait (Erector spinae /
abdominal muscles)
– Shuffling of Feet
– Drop foot
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Neurologic
◦ Loss / Diminished Achilles tendon reflex
◦ Loss / Diminished Patellar tendon reflex
◦ Decreased vibratory sensation and proprioception
◦ Hypoesthesia (stocking – glove distribution)
◦ Manual Muscle Test
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Integument
◦ Evaluate for cutaneous compromise
McGlamry’s Textbook of Foot and Ankle Surgery
Del Porto et al. Correlation between muscle
atrophy on MRI and manual strength testing in
hereditary neuropathies. J Clin. Neurosci. 2010
Reprint from National Institute of Neurologic Disorders and Stroke
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Indicated for:
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Mechanically controllable deformity
Slowly progressive deformity
Prevent falling and ankle sprains
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Extra depth shoes with accommodative
insoles / orthotics +/- metatarsal padding
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Decreased inversion 2/2 plantarflexed 1st
ray with custom orthotic
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Molded Ankle Foot Orthoses for drop foot
+/- double upright brace with spring
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Strengthening / stretching programs
designed to decrease contracture from
secondary muscle imbalance .
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i.e.. Picking up marbles, towel rolling, extensor
strengthening exercises
Suboptimal results reported for non
surgical intervention on severe cavus,
cavovarus, or Calcaneovarus deformity
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Goal: Maintain dorsiflexion and compensate
for muscle imbalance
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Custom orthoses may be inadequate to
compensate for progressive nature of
disease
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Rubin Institute of Advanced Orthopedics
Study (2010) Lamm et al.
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A plantigrade foot must be established within the
device
Contractures should be addressed prior
Photo courtesy of Clinical Prosthetics + Orthotics
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Goals:
• All fixed deformities must be corrected
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Muscle imbalance and function must be
restored (tendon transfers if indicated)
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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
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Procedures performed during lack of
progression have been shown to provide
better outcomes
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Digital Deformity Correction
• Metatarsal Deformity
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Midfoot Deformity
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Rearfoot Deformity
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Dropfoot Deformity
Ankle Equinus Deformity
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Peroneus Longus transfer
◦ Goal decrease PF force on first ray
◦ Split to Tibialis Anterior vs. Suture to
Peroneus Brevis
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Posterior Tibial tendon transfer
◦ Goal to increase DF force and
decreasing inversion strength
◦ Decreases progression of the disease
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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)
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› 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, 302-315
McGlamry’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, 201-211
McGlamry’s Textbook of Foot and Ankle Surgery
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Triple Arthrodesis Reconstruction
Reprinted from Thomas Chang: Master
Techniques in Podiatric Surgery: Foot and Ankle
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Progressive disease with phenotypic variation
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Important to weigh physical findings with patient goals
for effective treatment strategy
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Structural deformity will guide prognosis for surgical vs.
conservative therapy
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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):659-61
3. 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, 2009
5. 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, 2010
6. 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: 1217-1222
7. 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, 2010
9. Duval A, Kalempokas K, Penicaud A, Guiochon A, Mantel E, Bachmeyer C. Neuropathic leg ulcer indicating late adultonset 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; 1071-1089
14. 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; 21:52-573
15. 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; 8:1103
16. 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) 745–746
17. Oatis Carol. Charcot-Marie Tooth Disorders: Pathophysiology, Molecular Genetics and Therapy. John Wiley & Sons, Inc.
1990
18. 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; 16:1-14
20. 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; 9:1533
21. Van der Linden MH, Van der Linden SC, A, Hendricks HT, Van Engelen BGM, Geurts ACH. Postural instability in CharcotMarie-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.