Charcot-Marie-Tooth Disease (peroneal muscular atrophy)

Author: Mark Karadsheh

Topic updated on 03/17/13 12:07am

Introduction

A hereditary motor sensory neuopathy (HMSN) that has two forms resulting in muscles weakness and sensory changes
Epidemiology
- most common inherited neurological disease
- 1:2,500
Pathophysiology
- combination of motor and sensory disturbances as a result of nerve damage
  - motor involvement more profound than sensory
- affected muscles become weak
  - peroneus brevis
  - tibialis anterior
  - intrinsic muscles of hand and foot
Genetics
- inheritance
  - autosomal dominant (most common)
  - may also be
    - autosomal recessive
    - X-linked
- mutations
  - duplication on chromosome 17
    - codes for peripheral myelin protein 22 (PMP 22)
    - X-linked connexin 32
Orthopedic manifestations
- pes cavus
- hammer toes
- hip dysplasia
- scoliosis

Classification

Classification of CMT
Type I	A demyelinating condition that slows nerve conduction velocity Characteristics: 1. autosomal dominant 2. onset in first or second decade of life 3. most commonly leads to cavus foot
Type II	Direct axonal death caused by Wallerian degeneration (not demyelination) Characteristics: 1. Usually less diabled than Type I 2. onset in second decade of life or later 3. most commonly leads to flaccid foot

Presentation

Symptoms
- lateral foot pain
- sensory deficits are variable
- clumsiness
- frequent ankle sprains
- difficulty climbing stairs
Physical exam
- lower extremity
  - rigid cavovarus foot (similar to Freidreich's ataxia) with hammer toes or clawing of toes
  - atrophied EDB and EHB
  - calf atrophy
  - weak dorsiflexion and eversion due to weak tib ant and peroneals (foot drop during swing phase)
  - lower limb areflexia
  - Coleman block test
    - test to evaluate flexibility of hindfoot
      - flexible hindfoot will correct to neutral when block placed under lateral aspect of foot
      - a rigid hindfoot will not correct into neutral
- upper extremity
  - intrinsic wasting of hands

Studies

EMG
- low nerve conduction velocities with prolonged distal latencies are noted in peroneal, ulnar, and median nerves
Genetic Testing
- DNA analysis
  - PCR analysis used to detect peripheral myelin protien 22 (PMP22) gene mutations
- chromosomal analysis
  - duplication of chromosome 17 seen in autosomal dominant (most common) form

Cavus Foot Deformity

Introduction
- plantar flexed 1st ray is initial deformity
- cavus caused by peroneus longus (normal) overpower weak tibialis anterior
- varus caused by tibialis posterior (normal) overpowering weak peroneus brevis
Treatment
- follows similar treatment principals to cavovarus foot
- nonoperative
  - stretching, strengthening, and orthotics
    - indications
      - as initial management of a young patient
    - modalities
      - stretching & strengthening
        
        should focus on mobilization and strengthening of the weakening muscular units (peroneals, tibialis anterior)
      - orthotics
        
        includes accommodative inserts and orthotic devices for flexible deformity
        
        in a flexible deformity the orthosis should post lateral forefoot and the lateral heel
        
        AFOs for foot drop
- operative
  - plantar fascia release, tibialis posterior or peroneus longus tendon transfer, (+/-) TAL, (+/-) 1st metatarsal dorsiflexion osteotomy
    - indications
      - flexible hindfoot cavus deformities (normal Coleman block test)
      - surgical intervention should be delayed until progression of the deformity begins to cause symptoms and/or weakness of the muscular units, resulting in contractures of the antagonistic muscle units.
    - technique
      - tendon transfer (two method depending on involved muscels)
        
        posterior tibialis transfer to dorsum of foot to improve foot drop (augment weak tibialis anterior)
        
        peronues longus transfer to peroneus brevis (if peroneus longus is normal)
  - calcaneal valgus producing osteotomy
    - indications
      - rigid hindfoot cavus deformities (abnormal Coleman block test)
    - technique
      - combine with soft tissue procedure discussed above, and dorsiflexion 1st metatarsal osteotomy
  - triple arthrodesis
    - indications
      - severe rigid deformities
      - may be helpful in select cases but is falling out of favor
  - 1st metatarsal osteotomy and transfer of EHL to neck of 1st MT
    - indications
      - if there is hallux clawing combined with cavus foot

Claw Toes Deformity

Introduction
- ankle dorsiflexion weakness may result in the recruitment of toe extensors for assistance
  - in the setting of intrinsic muscle weakness, increased toe extensor activity can lead to claw toe deformity
Treatment
- operative
  - Jones procedure
    - indications
      - for symptomatic claw toe deformity which has failed non-operative measures
    - technique
      - transfers the extensor tendons of the great and lesser toes through the bone into the metatarsal neck
      - goal is to increase contributions to ankle dorsiflexion and decrease clawing in order to relieve pain on the dorsum of the toes

Hip dysplasias

Introduction
- hip dysplasia is sometimes associated with CMT
  - may present during adolescence in ambulatory patients
Treatment
- pelvic osteotomy
  - indications
    - end-stage osteoarthritis
  - outcomes
    - higher rate of sciatic nerve palsy after surgery

Scoliosis

Introduction
- often occurs in children with CMT
- characteristic left thoracic and kyphotic curve distinguish from idiopathic scoliosis
Treatment
- nonoperative
  - bracing
    - indications
      - bracing rarely effective
- operative
  - fusion and instrumentation
    - indications
      - progressive deformity

Please Rate Educational Value!

4.0

Average 4.0 of 16 Ratings

Qbank (12 Questions)

TAG

(SBQ04.2) An 14-year-old male child presents with the increasing foot deformity shown in Figure A. On physical exam, it is noted that he is unable to walk on his heels and has decreased Achilles reflexes bilaterally. Coleman block testing reveals correctable hindfoot deformity. Which procedure is associated with improved clinical outcomes in patients with the above described condition? Topic

Review Topic

FIGURES: A

1. Transfer of peroneus brevis to peroneus longus
2. Split anterior tibial tendon transfer to lateral column
3. Triple arthrodesis
4. Posterior tibial tendon transfer through the interosseous membrane to dorsum of the foot
5. Lateral column lengthening calcaneal osteotomy

PREFERRED RESPONSE ▶

DISCUSSION: The physical exam and clinical photo are consistent with a cavovarus foot deformity associated with Charcot-Marie-Tooth (CMT) disease. The Coleman block test reveals a flexible hindfoot deformity, which suggests that soft-tissue transfers and not osteotomies can correct the deformity. The posterior tibial tendon retains its strength in CMT and can aid in decreasing hindfoot varus while providing ankle dorsiflexion when transferred to the dorsum of the foot.

Wetmore and Drennan evaluated long-term outcomes in patient with CMT who had undergone triple arthrodesis. Nearly fifty-percent of patients had poor outcomes with only 24% having good and excellent results. This led to the recommendation that triple arthrodesis be reserved for a salvage procedure only in patients with CMT.

Roper and Tibrewal reviewed long term outcomes in patients with CMT undergoing a variety of soft-tissue procedures. At an average of 14 year follow-up, all 18 feet had avoided the need for triple arthrodesis while continuing to have satisfactory results.

Illustration A shows an example of the Coleman block test. This test is used to evaluate for flexibility of the hindfoot varus deformtiy. The illustration shows a flexible deformity with correction of the hindfoot varus.

Incorrect Answers:
Answer 1: Peroneal longus to brevis transfer can be utilized due to the fact that PL is typically preserved while PB is weakened in CMT.
Answer 2: The anterior tibial muscle is weakened and therefore transfer provides not benefit and can actually worsen the deformity.
Answer 3: Wetmore and Drennan revealed that poor outcomes are associated with triple arthrodesis in CMT.
Answer 5: Lateral column lengthening is used in pes planovalgus foot deformities.

Illustrations: A

REFERENCES:

1. Wetmore RS, Drennan JC: Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease. J Bone Joint Surg Am 1989;71:417-422 PMID:2925716 (Link to Abstract)

2. Roper BA, Tibrewal SB: Soft tissue surgery in Charcot-Marie-Tooth. J Bone Joint Surg Br 1989;71:17-20 PMID:2914996 (Link to Abstract)

Question Authors:

Chris Souder MD, Michael Hughes MD, Michael Hughes MD, Eric Shirley MD,

Please Rate Educational Value!

4.0

Average 4.0 of 5 Ratings

TAG

(OBQ10.56) A 32 year-old male complains of lateral foot pain and a progressively awkward gait. He has a family history of "foot problems" and reports some minor burning and numbness in both feet. He has no other medical problems, and takes no medications. Physical exam reveals bilateral cavus feet with clawing of the toes and intrinsic muscle wasting of the hands. A clinical photograph is shown in Figure A. Which of the following is responsible for the patients initial symptoms and awkward gait? Topic

Review Topic

FIGURES: A

1. Weak gastrocnemius-soleus complex
2. Peroneus brevis overpowering the posterior tibial tendon
3. Tibialis anterior overpowering the peroneus longus
4. Plantar flexion of the first ray
5. Clawing of the toes

PREFERRED RESPONSE ▶

DISCUSSION: This patient is presenting with the history and clinical findings of Charcot-Marie-Tooth disease. Symptoms can vary, but the development of cavovarus deformity as seen in the clinical radiograph is common. The initial deforming force is the result of a weak anterior tibialis being overpowered by the unaffected peroneus longus, bringing the first ray into a plantarflexed position. This forces the hindfoot into varus position leading to lateral column overload and pain. The weakened tibialis anterior can also lead to a foot-drop deformity, and compound the gait difficulties. The reference by Ward et al listed below shows improved outcomes in treatment of flexible cavovarus foot deformities with soft-tissue and osteotomy procedures compared to triple arthodesis at an average of 26 years post-operatively.

REFERENCES:

1. Ward CM, Dolan LA, Bennett DL, Morcuende JA, Cooper RR. Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 2008 Dec;90(12):2631-42. PMID:19047708 (Link to Abstract)

2. Hansen ST. Functional Reconstruction of the Foot and Ankle. Philadelphia, PA: Lippincott Williams & Wilkins; 2000:209-212.

Question Authors:

Joshua Blomberg MD, Eric Shirley MD, Patrick McCulloch MD,

Please Rate Educational Value!

4.0

Average 4.0 of 13 Ratings

TAG

(OBQ10.129) The PMP22 (peripheral myelin protein 22) is found at the cytogenetic location found in Figure A. What pediatric congenital disorder is associated with a mutation of this gene? Topic

Review Topic

FIGURES: A

1. Duchenne's/Becker's muscular dystrophies
2. Limb-girdle dystrophies
3. Myotonic dystrophy
4. Charcot-Marie-Tooth disease
5. Spinal muscular atrophy

PREFERRED RESPONSE ▶

DISCUSSION: Charcot-Marie-Tooth disease is a sensory motor demyelinating neuropathy that is autosomal dominant and is often due to a mutation of PMP22 (peripheral myelin protein 22) located at Chromosome 17p12. Orthopaedic manifestations include progressive distal muscle wasting/weakness (especially peroneal muscles), areflexia, hammertoes, hip dysplasia, and cavovarus foot deformities. Low nerve conduction velocities with prolonged distal latencies are noted in the peroneal, ulnar, and median nerves. Nerve pathology can show simultaneous demyelinization and remyelinization. There are several subtypes of the disease, but diagnosis is made commonly by DNA testing for a duplication of a portion of chromosome 17. Other pediatric congenital disorders and their associated genetic defect include Duchenne's/Becker's muscular dystrophies (dystrophin), Limb-girdle dystrophies (sarcoglycan and dystroglycan complex), myotonic dystrophy (myotonin), and spinal muscular atrophy (Survival motor neuron protein).

REFERENCES:

1. Dietz FR, Murray JC. Genetic basis of disorders with orthopaedic manifestations. In: Einhorn TA, O'Keefe RJ, Buckwalter JA, eds. Orthopaedic Basic Science: Foundations of Clinical Practice, 3rd ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2007:25-47.

2. Lieberman JR ed. AAOS Comprehensive Review. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2009:29-40.

Question Authors:

Michael Hughes MD, Patrick McCulloch MD, Eric Shirley MD,

Please Rate Educational Value!

2.0

Average 2.0 of 19 Ratings

TAG

(OBQ10.224) A 22-year-old woman is concerned about frequent ankle sprains and an awkward gait. Lower extremity nerve conduction velocities show prolonged distal latencies in the peroneal nerves. DNA testing shows a duplication of chromosome 17. Which of the following images is most likely the radiograph of this patient? Topic

Review Topic

FIGURES: A

1. Image A
2. Image B
3. Image C
4. Image D
5. Image E

PREFERRED RESPONSE ▶

DISCUSSION: Charcot-Marie-Tooth disease (CMT), or Hereditary Motor Sensory Neuropathy, is a demyelinating disorder of the peripheral nervous system. Manifestations in the foot include pes cavovarus, claw toes, and frequent ankle sprains. The cause of the foot deformities in CMT is an imbalance of distal musculature, with the peroneus brevis and tibialis anterior being relatively overpowered by the peroneus longus. The paper by Alexander et al. discussed the difficulties reconstructing cavovaus feet of CMT, with special focus on muscle imbalance causing the deformity. Paulos et al studied over twenty patients with CMT who underwent plantar tissue releases and tendon transfers. With at least two year follow up, 85% were found to have acceptable results. Other described techniques include osteotomies as well. Image C shows a high arched foot of a person with CMT. Image A shows an accessory navicular. Image B shows a calcaneonavicular coalition. Image D shows a foot without pathology, while image E shows a ball-and-socket ankle, which can be associated with fibular hemimelia. While other radiographic choices could represent a patient with frequent ankle spains, none of them except a patient with CMT would have abnormal nerve conduction studies.

REFERENCES:

1. Alexander IJ, Johnson KA. Assessment and management of pes cavus in Charcot-Marie-tooth disease. Clin Orthop Relat Res. 1989 Sep;(246):273-81. PMID:2766615 (Link to Abstract)

2. Paulos L, Coleman SS, Samuelson KM. Pes cavovarus. Review of a surgical approach using selective soft-tissue procedures. J Bone Joint Surg Am. 1980 Sep;62(6):942-53. PMID:7430182 (Link to Abstract)

Question Authors:

Dave Marcu MD, Eric Shirley MD,

Please Rate Educational Value!

3.0

Average 3.0 of 15 Ratings

TAG

(OBQ08.29) A 5-year-old boy has bilateral cavus feet and genetic testing reveals duplication of the PMP (peripheral myelin protein) gene on chromosome 17. What is the most likely diagnosis? Topic

Review Topic

1. Myelodysplasia
2. Ewings Sarcoma
3. Charcot-Marie-Tooth Disease
4. Cerebral Palsy
5. Poliomyelitis

PREFERRED RESPONSE ▶

DISCUSSION: Charcot-Marie-Tooth disease, a group of diseases that affect the peripheral nerve, is moderately common, with an incidence of 1 in 2500 individuals. All forms of the disease manifest as distal weakness primarily in the foot and ankle; somewhat later in life the hand may be affected as well. Most patients usually present toward the end of the first decade with progressive cavovarus deformities of the feet associated with dorsiflexion of the toes during the swing phase of gait and contracture of the plantar fascia. There are 30 genes that now have been described in association with the different forms of HMSN, CMT disease. 70% of patients show a duplication of the peripheral myelin protein (PMP) gene on chromosome 17

REFERENCES:

1. Nagai MK, Chan G, Guille JT, et al: Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus geet. J Pediatr Orthop 2006;26:438-443 PMID:16791058 (Link to Abstract)

2. Schwend, Drennan: Cavus foot deformity in children. J Am Acad Orthop Surg 2003;11:32 201-211. PMID:12828450 (Link to Abstract)

Question Authors:

Paul D. Kim MD,

Please Rate Educational Value!

3.0

Average 3.0 of 4 Ratings

TAG

(OBQ06.75) Plantar flexion of the first ray is the initial deformity seen in which condition? Topic

Review Topic

1. Oblique talus
2. Kohler's disease
3. Charcot-Marie-Tooth
4. Calcaneovalgus foot
5. Juvenile hallux valgus

PREFERRED RESPONSE ▶

DISCUSSION: Charcot-Marie-Tooth (CMT) disease is a hereditary motor sensory neuropathy. These patients often develop a pes cavovarus deformity (Illustration A) with the intial stage being plantar flexion of the 1st ray.

A weakened tibialis anterior / peroneus brevis is overpowered by a stronger peroneus longus / posterior tibialis and results in a plantar flexed first metatarsal and pronated forefoot as described in the article by Mosca. Hindfoot varus deformity develops secondarily. As the deformities become more fixed, an equinus deformity can also develop.

Coleman block testing as described in CORR from 1977 can help determine if the hindfoot varus deformity is fixed or flexible. Hindfoot flexibility is noted by placing the lateral foot on a block to remove the plantar flexed first ray from contributing to the deformity and observing the hindfoot moving to a more neutral position.

Illustrations: A

REFERENCES:

1. Coleman SS, Chesnut WJ. A simple test for hindfoot flexibility in the cavovarus foot. Clin Orthop Relat Res. 1977 Mar-Apr;(123):60-2 PMID:852192 (Link to Abstract)

2. Mosca VS. The cavus foot. J Pediatr Orthop. 2001 Jul-Aug;21(4):423-4. Review. PMID:11433149 (Link to Abstract)

Question Authors:

Michael Hughes MD, Eric Shirley MD, Patrick McCulloch MD, Daniel Farber MD,

Please Rate Educational Value!

3.0

Average 3.0 of 10 Ratings

TAG

(OBQ06.83) A 42-year-old woman with Charcot-Marie-Tooth disease complains of longstanding foot pain. Orthotics, bracing, and NSAIDs no longer provide relief. She has cavovarus hindfoot deformity that does not correct with Coleman block testing. Radiographs are notable for degenerative changes within the talocalcaneal and calcaneocuboid joints. Which of the following is the most appropriate treatment? Topic

Review Topic

1. Split tibialis posterior transfer
2. Triple arthrodesis
3. Lateral closing wedge calcaneal osteotomy with peroneus longus to brevis transfer
4. First metatarsal dorsal closing wedge osteotomy
5. Achilles tendon lengthening

PREFERRED RESPONSE ▶

DISCUSSION: Charcot-Marie-Tooth disease is also known as hereditary motor sensory neuropathy. Characteristic deformity occurs when the weakened peroneal brevis and anterior tibalis succumb to the stronger posterior tibialis and peroneus longus resulting in a cavovarus foot. Coleman block testing is used to determine whether the deformity is flexible or rigid. An example of a correctable deformity is provided in Illustration A. Once the foot has become rigid and begins developing arthritic changes, triple arthrodesis is indicated. Flexible deformities without arthritic changes may be amenable to tendon transfers and dorsiflexion osteotomy of the first ray. Holmes et al reviews the evaluation, diagnosis, and treatment of the cavovarus foot in Charcot-Marie-Tooth disease.

Illustrations: A

REFERENCES:

1. Richardson EG (ed): Orthopaedic Knowledge Update: Foot and Ankle 3. Rosemount, IL, AAOS, 2004, pp 135-143.

2. Holmes JR, Hansen ST Jr: Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle 1993; 14: 476-486. PMID:8253442 (Link to Abstract)

Question Authors:

John Badylak MD, Eric Shirley MD,

Please Rate Educational Value!

3.0

Average 3.0 of 10 Ratings

TAG

(OBQ05.47) Lateral forefoot and heel posts would be the appropriate orthotic for the foot deformities associated with which of the following conditions? Topic

Review Topic

1. Charcot-Marie-Tooth disease
2. Stage II posterior tibial tendon insufficiency
3. Stage III posterior tibial tendon insufficiency
4. Charcot arthropathy
5. Hallux rigidus

PREFERRED RESPONSE ▶

DISCUSSION: The deformity seen with Charcot-Marie-Tooth, a progressive motor-sensory condition, is a cavovarus foot. Other diseases such as poliomyelitis and cerebral palsy also can cause a cavovarus deformity. The Schwend et al article states that the goal of surgical management is to obtain a mobile plantigrade foot with correction of the cavus deformity. Therefore you would want to post the lateral forefoot and the lateral heel (answer 1). Posting the lateral forefoot allows for flexion of the first metatarsal (correcting the forefoot driven, hindfoot varus deformity commonly seen in CMT), and posting the lateral heel corrects the varus hindfoot.

REFERENCES:

1. Schwend RM, Drennan JC: Cavus foot deformity in children. J Am Acad Orthop Surg 2003; 11:201-211 PMID:12828450 (Link to Abstract)

2. Holmes JR, Hansen ST Jr: Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle 1993;14:476-486 PMID:8253442 (Link to Abstract)

3. Alexander IJ, Johnson KA: Assessment and management of pes cavus in Charcot-Marie-Tooth disease. Clin Orthop 1989;246:273-281 PMID:2766615 (Link to Abstract)

Question Authors:

Greg Galano MD, Patrick McCulloch MD, Eric Shirley MD,

Please Rate Educational Value!

4.0

Average 4.0 of 9 Ratings

TAG

(OBQ05.87) The cavus deformity in Charcot-Marie-Tooth disease is caused by what muscular imbalance? Topic

Review Topic

1. Peroneus brevis overpowering peroneus longus
2. Tibialis anterior overpowering tibialis posterior
3. Achilles overpowering tibialis anterior
4. Extrinsic toe flexors overpowering intrinsics
5. Peroneus longus overpowering tibialis anterior

PREFERRED RESPONSE ▶

DISCUSSION: The etiology of the abnormal foot posture in Charcot-Marie-Tooth disease usually results from peroneus longus overpowering tibialis anterior (causing cavus) coupled with tibialis posterior overpowering peroneus brevis (causing varus).

Bilateral pes cavovarus is the most common pathologic foot deformity seen with Charcot-Marie-Tooth disease. A passively correctable, or flexible, cavovarus foot is appropriately treated with plantar fascial release, dorsal closing wedge osteotomy of the first metatarsal, and peroneus longus to peroneus brevis tendon transfer.

Holmes and Hansen present a Level 5 review of Charcot-Marie-Tooth disease. The report that the specific components of the disease process includes hindfoot varus, anterior or forefoot cavus, and often clawtoes.

REFERENCES:

1. Richardson EG (ed): Orthopaedic Knowledge Update: Foot and Ankle 3. Rosemount, IL, American Academy of Orthopaedic Surgeons, 2004, pp 135-143.

2. Holmes JR, Hansen ST Jr: Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle 1993;14:476-486. PMID:8253442 (Link to Abstract)

Question Authors:

Greg Galano MD, Patrick McCulloch MD, Michael Hughes MD,

Please Rate Educational Value!

4.0

Average 4.0 of 6 Ratings

TAG

(OBQ05.254) A 17-year-old male complains of a foot deformity that has progressed over the past 1 year. He has pain along the lateral border of his foot with walking. His father has had similar problems with both feet throughout his life. A clinical photograph of the foot is provided in Figure A. Proper management of this patient should include evaluation for which of the following findings? Topic

Review Topic

FIGURES: A

1. Acetabular dysplasia
2. Cervical stenosis
3. Uveitis
4. Hypoplastic thumb
5. Thrombocytopenia

PREFERRED RESPONSE ▶

DISCUSSION: The patients clinical presentation is consistent with Charcot-Marie-Tooth disease (CMT), also known as hereditary motor sensory neuropathy. The cavovarus foot is secondary to peroneus brevis and anterior tibialis weakness. Acetabular dysplasia is known to occur in association with CMT.

Fuller et al review 4 familial cases of CMT. The patients demonstrated cavovarus foot deformities, decreased conduction velocities, acetabular dysplasia, and Trendelenburg gait.

Schwend et al review the evaluation, diagnosis, and treatment of cavus foot deformity in children. Management of the deformity is predicated upon proper diagnosis of the etiology for the cavus foot.

REFERENCES:

1. Fuller JE, DeLuca PA. Acetabular dysplasia and Charcot-Marie-Tooth disease in a family. A report of four cases. J Bone Joint Surg Am. 1995 Jul;77(7):1087-91. PMID:7608233 (Link to Abstract)

2. Schwend RM, Drennan JC. Cavus foot deformity in children. J Am Acad Orthop Surg. 2003 May-Jun;11(3):201-11. PMID:12828450 (Link to Abstract)

Question Authors:

John Badylak MD, Eric Shirley MD, Ben Taylor MD,

Please Rate Educational Value!

2.0

Average 2.0 of 30 Ratings

TAG

(OBQ04.211) A 24-year-old male with hereditary motor sensory neuropathy complains of worsening bilateral foot pain with ambulation and limited walking tolerance. Clinical photographs are shown in Figures A and B. The deformity corrects with Coleman block testing. Radiographs of the left foot are provided in Figures C-E. Which of the following is the best initial management for this patient? Topic

Review Topic

FIGURES: A

1. Custom orthotics with posting of the lateral forefoot and lateral heel
2. Custom orthotics with posting of the medial forefoot and medial heel
3. Custom orthotics with medial heel posting and lateral forefoot recession
4. Gastrocnemius slide followed by dorsiflexion casting
5. Dorsal first metatarsal osteotomy with calcaneal slide osteotomy

PREFERRED RESPONSE ▶

DISCUSSION: The clinical presentation and photographs demonstrate a patient with bilateral cavovarus feet. The deformity is flexible as evidenced by correction with Coleman block testing. Illustration A provides an example of Coleman block testing. Radiographs demonstrate a high calcaneal pitch, but no arthritic changes. A flexible cavovarus foot can be passively corrected by posting of the lateral forefoot and lateral heel. Surgical interventions should be reserved for fixed deformities and failure of conservative treatment. Sammarco et al reviewed 21 feet with severe symptomatic cavovarus deformity who underwent lateral slide calcaneal osteotomy and dorsal closing wedge osteotomies of the metatarsal(s). The only complications encountered were delayed union and nonunion of the metatarsal osteotomy. Overall, patients did very well with pain reduction, preservation of motion, and enhanced ambulation.

Illustrations: A

REFERENCES:

1. Sammarco GJ, Taylor R. Cavovarus foot treated with combined calcaneus and metatarsal osteotomies. Foot Ankle Int. 2001 Jan;22(1):19-30. PMID:11206819 (Link to Abstract)

Question Authors:

John Badylak MD, Eric Shirley MD,

Please Rate Educational Value!

5.0

Average 5.0 of 6 Ratings

Posts

Long-term Results of Reconstruction for Treatment of a Flexible Cavovarus Foot in Charcot-Marie-Tooth Disease. Includes Poll

Ward CM, Dolan LA, Bennett DL, Morcuende JA, Cooper RR
J Bone Joint Surg Am. 2008 Dec;90(12):2631-42. PMID: 19047708 (Link to Pubmed)

Pediatrics - Journal Club - Charcot-Marie-Tooth Disease (peroneal muscular atrophy)

3 weeks ago

38 responses

See More Posts

Groups

ABOS II: Charcot-Marie-Tooth Disease (peroneal muscular atrophy)

General - Oral Boards Review

7/29/2011

0 responses

See More Groups

Evidence & References Show References

Level of Evidence 4 (Case Series)

Fuller JE, DeLuca PA. Acetabular dysplasia and Charcot-Marie-Tooth disease in a family. A report of four cases. J Bone Joint Surg Am. 1995 Jul;77(7):1087-91. PMID:7608233 (Link to Abstract)
Sammarco GJ, Taylor R. Cavovarus foot treated with combined calcaneus and metatarsal osteotomies. Foot Ankle Int. 2001 Jan;22(1):19-30. PMID:11206819 (Link to Abstract)

Level of Evidence 5 and Other Journal Articles (includes Case Reports, Expert Opinions, Personal Observations, and Biomechanic Studies)

Coleman SS, Chesnut WJ. A simple test for hindfoot flexibility in the cavovarus foot. Clin Orthop Relat Res. 1977 Mar-Apr;(123):60-2 PMID:852192 (Link to Abstract)
Mosca VS. The cavus foot. J Pediatr Orthop. 2001 Jul-Aug;21(4):423-4. Review. PMID:11433149 (Link to Abstract)
Richardson EG (ed): Orthopaedic Knowledge Update: Foot and Ankle 3. Rosemount, IL, American Academy of Orthopaedic Surgeons, 2004, pp 135-143.
Schwend RM, Drennan JC. Cavus foot deformity in children. J Am Acad Orthop Surg. 2003 May-Jun;11(3):201-11. PMID:12828450 (Link to Abstract)

Textbooks

Review of Orthopaedics, 6th Edition, Mark D. Miller MD, Stephen R. Thompson MBBS MEd FRCSC, Jennifer Hart MPAS PA-C ATC, an imprint of Elsevier, Philadelphia, Copyright 2012
AAOS Comprehensive Orthopaedic Review, Jay R. Leiberman. Published by American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2009
Orthopaedic Knowledge Update 10, John M Flyn. Published by American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2011
Hoppenfeld SP. Surgical Exposures in Orthopaedics: The Anatomic Approach. Lipponcott, Williams, and Wilkins, Philadelphia, PA, Copyright 2009
Orthopaedic In-training Examination (OITE) Questions 2004-2012, American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2004-2012
Self-Assessment Examination (SAE) Questions 2004-2012, American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2004-2012
Dehne R. Congenital and acquired neurologic disorders. In: Coughlin MJ, Mann RA, Saltzman CL, eds. Surgery of the Foot and Ankle. 8th ed. Philadelphia, PA: Mosby Elsevier; 2007:1763-1773.
Wapner KL. Pes cavus. In: Myerson MS, ed. Foot and Ankle Disorders. Philadelphia, PA: WB Saunders; 2000:919-941
Dietz FR, Murray JC. Genetic basis of disorders with orthopaedic manifestations. In: Einhorn TA, O'Keefe RJ, Buckwalter JA, eds. Orthopaedic Basic Science: Foundations of Clinical Practice, 3rd ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2007:25-47.
Lieberman JR ed. AAOS Comprehensive Review. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2009:29-40.
Holmes JR, Hansen ST Jr: Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle 1993;14:476-486. PMID:8253442 (Link to Abstract)

Undefined

Wetmore RS, Drennan JC: Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease. J Bone Joint Surg Am 1989;71:417-422 PMID:2925716 (Link to Abstract)
Roper BA, Tibrewal SB: Soft tissue surgery in Charcot-Marie-Tooth. J Bone Joint Surg Br 1989;71:17-20 PMID:2914996 (Link to Abstract)
Ward CM, Dolan LA, Bennett DL, Morcuende JA, Cooper RR. Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease. J Bone Joint Surg Am. 2008 Dec;90(12):2631-42. PMID:19047708 (Link to Abstract)
Hansen ST. Functional Reconstruction of the Foot and Ankle. Philadelphia, PA: Lippincott Williams & Wilkins; 2000:209-212.
Alexander IJ, Johnson KA. Assessment and management of pes cavus in Charcot-Marie-tooth disease. Clin Orthop Relat Res. 1989 Sep;(246):273-81. PMID:2766615 (Link to Abstract)
Paulos L, Coleman SS, Samuelson KM. Pes cavovarus. Review of a surgical approach using selective soft-tissue procedures. J Bone Joint Surg Am. 1980 Sep;62(6):942-53. PMID:7430182 (Link to Abstract)
Nagai MK, Chan G, Guille JT, et al: Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus geet. J Pediatr Orthop 2006;26:438-443 PMID:16791058 (Link to Abstract)
Schwend, Drennan: Cavus foot deformity in children. J Am Acad Orthop Surg 2003;11:32 201-211. PMID:12828450 (Link to Abstract)
Richardson EG (ed): Orthopaedic Knowledge Update: Foot and Ankle 3. Rosemount, IL, AAOS, 2004, pp 135-143.
Holmes JR, Hansen ST Jr: Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle 1993; 14: 476-486. PMID:8253442 (Link to Abstract)
Schwend RM, Drennan JC: Cavus foot deformity in children. J Am Acad Orthop Surg 2003; 11:201-211 PMID:12828450 (Link to Abstract)
Holmes JR, Hansen ST Jr: Foot and ankle manifestations of Charcot-Marie-Tooth disease. Foot Ankle 1993;14:476-486 PMID:8253442 (Link to Abstract)
Alexander IJ, Johnson KA: Assessment and management of pes cavus in Charcot-Marie-Tooth disease. Clin Orthop 1989;246:273-281 PMID:2766615 (Link to Abstract)
Bertorini T, Narayanaswami P, Rashed H. Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies. Neurologist. 2004 Nov;10(6):327-37. PMID:15518599 (Link to Abstract)

Topic Comments

Subscribe status: On Off

Recent on Bottom | Recent on Top

Page:1

Charcot-Marie-Tooth Disease (peroneal muscular atrophy)

Qbank (12 Questions)

Question Comments

Question Comments

Question Comments

Question Comments

Question Comments

Question Comments

Question Comments

Question Comments

Question Comments

Question Comments

Question Comments

Posts

Groups

Evidence & References Show References

Topic Comments