- Email: [email protected]
Hand Treatment in Charcot–Marie–Tooth Disease
IN BRIEF
Hand Treatment in CharcoteMarieeTooth Disease Charalambos A. Georgiou, MD, André Gay, MD, Régis Legré, PhD, MD
C
(CMT) is the most common hereditary neuromuscular disorder.1 Its main characteristic is progressive distal to proximal axonal degeneration. It initially affects the lower limbs and finally progresses to the upper limbs. However, specific CMT types may affect mainly the upper limbs with an earlier onset.1 Thus, a number of CMT patients experience impaired hand function at a young age. Impaired hand function affects school participation, career expectations, and employment, and may lead to social isolation.2,3 Surgeons have widely accepted lower limb surgery as a palliative treatment for foot deformities of CMT patients. However, upper limb surgery is not performed as commonly. This precludes the opportunity for a better quality of life with autonomy and improved hand dexterity. This article summarizes and discusses current surgical options to manage CMT patients with impaired hand function. HARCOTeMARIEeTOOTH
In Brief
CLINICAL PICTURE The clinical presentation (Fig. 1) is not specific and may resemble any other condition with intrinsic muscle wasting.4 However, the distal to proximal progression is characteristic of CMT. Hand involvement starts with intrinsic paralysis, which is responsible for the following5,6: (1) thumb From the Department of Hand Surgery, La Conception University Hospital, Marseilles, France. Received for publication April 9, 2013; accepted in revised form September 2, 2013. The corresponding author thanks Professors Christian Dumontier, Bertrand Coulet, and Michel Merle for sharing their experience and point of view concerning the surgical treatment of CharcoteMarieeTooth disease. No benefits in any form have been received or will be received related directly or indirectly to the subject of this article. Corresponding author: Charalambos A. Georgiou, MD, Department of Hand Surgery, La Conception University Hospital, 147 Boulevard Baille, Marseilles 13005, France; e-mail: [email protected]. 0363-5023/13/38A12-0030$36.00/0 http://dx.doi.org/10.1016/j.jhsa.2013.09.004
2482
r
Ó 2013 ASSH
r
Published by Elsevier, Inc. All rights reserved.
FIGURE 1: Typical hand deformity in a patient with CMT type 1A disease. Note intrinsic muscle wasting. The patient presents metacarpophalangeal hyperextension that limits finger flexion and alters the prehension of objects. In this case, flexor muscles are still active and may be used. For example, a Zancolli lasso technique would be a suitable intervention.
thenar atrophy, reduced thumb mobility with lack of opposition, thumb instability, and pinch weakness; and (2) finger clawing, abduction and adduction weakness, and loss of synchronistic finger flexion. The index finger fails to form a stable thumbeindex pinch and collapses under the thumb’s pressure. Forearm muscle wasting follows primarily with weakness of the muscles innervated by the median
2483
HAND TREATMENT IN CHARCOTeMARIEeTOOTH DISEASE
Opponensplasties for CMT Hands Name
Motor
Insertion
Pulley
Phalen and Miller
Extensor carpi ulnaris
Extensor pollicis brevis
Around ulna (not specific)
Burkhalter
Extensor indicis proprius
Abductor pollicis brevis tendon
Around ulna (not specific)
Michelinakis and Vourexakis (and variations)
Flexor digitorum superficialis of fourth finger
Brand Abductor pollicis brevis tendon
Transverse carpal ligament Flexor carpi ulnaris loop
and ulnar nerves. Muscles innervated by the radial nerve are the least affected.4 Damage to large-diameter axons results in hand sensory function loss that may be associated with neurological pain. Lack of sensation does not follow the typical distal to proximal pattern, but usually has a “patchy” mode. Consequently, this sensibility impairment also affects dexterity.7 These alterations result in fatigue, loss of strength, and loss of dexterity.3 Patients manipulate small objects with difficulty and prehension is altered.7 Therefore, patients develop compensatory grasp patterns (gross raking for small objects, palm-to-palm pinch for large objects, and scissoring) to compensate for the deficiencies.5 TREATMENT To date, there is no cure for CMT. Medical therapy such as ascorbic acid8 and neurotrophin 39 has been suggested but the outcomes are not conclusive. Surgical treatment may provide palliative solutions. Soft tissue surgery and articular fusions are useful for lower limb deformities. However, physicians have not widely adopted surgical treatment of the upper limb. Consequently, studies that evaluate surgical treatment for hand CMT are sparse in the literature. Some authors have proposed carpal tunnel release to improve nerve conduction.4 Published outcomes were inconsistent, and therefore surgeons should propose this option only for carpal tunnel syndrome diagnosed by nerve conduction studies. The diagnosis should be confirmed by comparing the nerve conduction speed of the median nerve of the affected side with the contralateral side or the homolateral ulnar nerve.10 The role of surgery is supportive and resembles the palliative treatment of intrinsic wasting in other conditions. The difference is that forearm muscles will weaken in CMT. However, muscles innervated by the radial nerve are the last to be affected and are therefore more suitable for transfer. J Hand Surg Am.
r
According to the literature, treatment options may be divided into joint stabilization and tendon transfers. Thumb stabilization In the presence of thenar atrophy, the thumb should be stabilized. Metacarpophalangeal fusion is recommended, and if thenar muscles and pinch are weak, trapeziometacarpal and/or interphalangeal joint fusion can complete thumb stabilization.4 Thumb opposition Some authors have proposed several types of opponensplasties (Table 1).4,5 Because radial innervated muscles are the last to be affected, extensor carpi ulnaris transfer to extensor pollicis brevis seems a logical choice. Pinch reinforcement and index stabilization Wood et al4 proposed reinforcement of the pinch by transferring the extensor indicis proprius around the third metacarpal to the adductor pollicis. Alternatively, they proposed transferring a slip of abductor pollicis longus or extensor pollicis brevis (if the metacarpophalangeal joint is fused) to the first dorsal interosseous muscle. Finger clawing Treatment of clawing may include static or dynamic procedures (Table 2). Static procedures include primarily Zancolli volar plate advancement, which corrects the deformity but may stretch with time. Other static procedures include tenodeses with or without tendon grafts.6 Dynamic procedures are represented primarily by the Zancolli lasso technique. Other techniques propose the use of flexor digitorum superficialis (FDS). However, flexor muscles are affected early in the course of the disease, and therefore Paul Brand’s extensor carpi radialis brevis transfer with intercalated grafts to the extensor digitorum’s lateral bands is a useful alternative.11 Vol 38, December 2013
In Brief
TABLE 1.
2484
TABLE 2.
HAND TREATMENT IN CHARCOTeMARIEeTOOTH DISEASE
well-indicated procedure, referrals from neurologists are limited, mainly because of their concerns that the donor muscles will weaken as the disease progresses. This is unavoidable; nevertheless, surgery prolongs dexterity and autonomy. We believe that CMT patients should be categorized into the following 2 groups: patients with active forearm muscles (usually younger patients) and patients with no active muscles (older patients). For patients in the first group, muscle transfers should be proposed as initial treatment, considering that radial innervated muscles are the last to be affected. A preoperative electromyography is essential for proper preoperative decision making.13 When the effect of the muscle transfer dissipates, static procedures may help to reduce clawing deformation and prolong dexterity. For patients in the second group, we propose only static hand procedures for palliation.
Surgical Treatment for Clawing Clawing Treatment
Static procedure Zancolli 1
Volar plate advancement
Riordan tenodesis
ECU and ECRL proximally cut slips transferred to the fingers whilst remaining attached to the distant donor tendon’s insertion
Fowler tenodesis
Free tendon grafts (divided tendon graft inserted to the lateral bands of the index and middle finger looping the extensor retinaculum and inserted to the lateral bands of the ring and pinky finger)
Smith sling tenodesis
Tendon grafts connecting two fingers (looping the deep transverse metacarpal ligament)
Sirinivasan tenodesis
Tendon graft between finger and extrinsic extensor
Dynamic procedure
REFERENCES
Motor
Zancolli 2
Flexor digitorum superficialis lasso
Stiles/Bunnell/Littler
Flexor digitorum superficialis transfer to the fingers with or without grafts
Brand 1
Extensor carpi radialis brevis transfer to fingers with 4 tendon grafts
In Brief
Tendon transfers to the fingers for clawing correction may have 4 kinds of insertion: A1 pulley, A2 pulley, lateral band, or bone tunnel in proximal phalanx.
Our experience is limited; we have operated on 5 patients and 8 hands in the past 10 years. We performed a bilateral carpal tunnel release, 1 Littler FDS transfer to lateral bands, 1 Zancolli lasso, and 3 Zancolli capsulodeses. The Zancolli capsulodeses were associated with metacarpophalangeal joint fusion. Results were good and the patients were satisfied. The Littler FDS transfer weakened after 4 years; revision surgery with Zancolli capsulodesis was performed with satisfactory results. To help patients decide whether to proceed with the operation, surgery candidates had preoperative splinting to simulate the operation’s effect.12 Our limited experience is comparable to the few reports in the literature.4,5,10 Furthermore, we observed that even though patients benefit from a
J Hand Surg Am.
r
1. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 2009;8(7):654e667. 2. Burns J, Bray P, Cross LA, et al. Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord. 2008;18(12):970e973. 3. Videler AJ, Beelen A, van Schaik IN, et al. Limited upper limb functioning has impact on restrictions in participation and autonomy of patients with hereditary motor and sensory neuropathy 1a. J Rehabil Med. 2009;41(9):746e750. 4. Wood VE, Huene D, Nguyen J. Treatment of the upper limb in Charcot-Marie-Tooth disease. J Hand Surg Br. 1995;20(4):511e518. 5. Estilow T, Kozin SH, Glanzman AM, et al. Flexor digitorum superficialis opposition tendon transfer improves hand function in children with Charcot-Marie-Tooth disease: case series. Neuromuscul Disord. 2012;22(12):1090e1095. 6. Sapienza A, Green S. Correction of the claw hand. Hand Clin. 2012;28(1):53e66. 7. Schreuders TA, Selles RW, van Ginneken BT, et al. Sensory evaluation of the hands in patients with Charcot-Marie-Tooth disease using Semmes-Weinstein monofilaments. J Hand Ther. 2008;21(1): 28e34; quiz 35. 8. Burns J, Ouvrier RA, Yiu EM, et al. Ascorbic acid for CharcotMarie-Tooth disease type 1A in children: a randomised, doubleblind, placebo-controlled, safety and efficacy trial. Lancet Neurol. 2009;8(6):537e544. 9. Young P, De Jonghe P, Stogbauer F, et al. Treatment for CharcotMarie-Tooth disease. Cochrane Database Syst Rev. 2008:CD006052. 10. Chalekson CP, Brown RE, Gelber DA, et al. Nerve decompression at the wrist in patients with Charcot-Marie-Tooth disease. Plast Reconstr Surg. 1999;104(4):999e1002. 11. Riordan DC. Tendon transfers in hand surgery. J Hand Surg Am. 1983;8(5 Pt 2):748e753. 12. Videler A, Eijffinger E, Nollet F, et al. A thumb opposition splint to improve manual dexterity and upper-limb functioning in CharcotMarie-Tooth disease. J Rehabil Med. 2012;44(3):249e253. 13. Mackin GA, Gordon MJ, Neville HE, et al. Restoring hand function in patients with severe polyneuropathy: the role of electromyography before tendon transfer surgery. J Hand Surg Am. 1999;24(4): 732e742.
Vol 38, December 2013
Hand Treatment in CharcoteMarieeTooth Disease Charalambos A. Georgiou, MD, André Gay, MD, Régis Legré, PhD, MD
C
(CMT) is the most common hereditary neuromuscular disorder.1 Its main characteristic is progressive distal to proximal axonal degeneration. It initially affects the lower limbs and finally progresses to the upper limbs. However, specific CMT types may affect mainly the upper limbs with an earlier onset.1 Thus, a number of CMT patients experience impaired hand function at a young age. Impaired hand function affects school participation, career expectations, and employment, and may lead to social isolation.2,3 Surgeons have widely accepted lower limb surgery as a palliative treatment for foot deformities of CMT patients. However, upper limb surgery is not performed as commonly. This precludes the opportunity for a better quality of life with autonomy and improved hand dexterity. This article summarizes and discusses current surgical options to manage CMT patients with impaired hand function. HARCOTeMARIEeTOOTH
In Brief
CLINICAL PICTURE The clinical presentation (Fig. 1) is not specific and may resemble any other condition with intrinsic muscle wasting.4 However, the distal to proximal progression is characteristic of CMT. Hand involvement starts with intrinsic paralysis, which is responsible for the following5,6: (1) thumb From the Department of Hand Surgery, La Conception University Hospital, Marseilles, France. Received for publication April 9, 2013; accepted in revised form September 2, 2013. The corresponding author thanks Professors Christian Dumontier, Bertrand Coulet, and Michel Merle for sharing their experience and point of view concerning the surgical treatment of CharcoteMarieeTooth disease. No benefits in any form have been received or will be received related directly or indirectly to the subject of this article. Corresponding author: Charalambos A. Georgiou, MD, Department of Hand Surgery, La Conception University Hospital, 147 Boulevard Baille, Marseilles 13005, France; e-mail: [email protected]. 0363-5023/13/38A12-0030$36.00/0 http://dx.doi.org/10.1016/j.jhsa.2013.09.004
2482
r
Ó 2013 ASSH
r
Published by Elsevier, Inc. All rights reserved.
FIGURE 1: Typical hand deformity in a patient with CMT type 1A disease. Note intrinsic muscle wasting. The patient presents metacarpophalangeal hyperextension that limits finger flexion and alters the prehension of objects. In this case, flexor muscles are still active and may be used. For example, a Zancolli lasso technique would be a suitable intervention.
thenar atrophy, reduced thumb mobility with lack of opposition, thumb instability, and pinch weakness; and (2) finger clawing, abduction and adduction weakness, and loss of synchronistic finger flexion. The index finger fails to form a stable thumbeindex pinch and collapses under the thumb’s pressure. Forearm muscle wasting follows primarily with weakness of the muscles innervated by the median
2483
HAND TREATMENT IN CHARCOTeMARIEeTOOTH DISEASE
Opponensplasties for CMT Hands Name
Motor
Insertion
Pulley
Phalen and Miller
Extensor carpi ulnaris
Extensor pollicis brevis
Around ulna (not specific)
Burkhalter
Extensor indicis proprius
Abductor pollicis brevis tendon
Around ulna (not specific)
Michelinakis and Vourexakis (and variations)
Flexor digitorum superficialis of fourth finger
Brand Abductor pollicis brevis tendon
Transverse carpal ligament Flexor carpi ulnaris loop
and ulnar nerves. Muscles innervated by the radial nerve are the least affected.4 Damage to large-diameter axons results in hand sensory function loss that may be associated with neurological pain. Lack of sensation does not follow the typical distal to proximal pattern, but usually has a “patchy” mode. Consequently, this sensibility impairment also affects dexterity.7 These alterations result in fatigue, loss of strength, and loss of dexterity.3 Patients manipulate small objects with difficulty and prehension is altered.7 Therefore, patients develop compensatory grasp patterns (gross raking for small objects, palm-to-palm pinch for large objects, and scissoring) to compensate for the deficiencies.5 TREATMENT To date, there is no cure for CMT. Medical therapy such as ascorbic acid8 and neurotrophin 39 has been suggested but the outcomes are not conclusive. Surgical treatment may provide palliative solutions. Soft tissue surgery and articular fusions are useful for lower limb deformities. However, physicians have not widely adopted surgical treatment of the upper limb. Consequently, studies that evaluate surgical treatment for hand CMT are sparse in the literature. Some authors have proposed carpal tunnel release to improve nerve conduction.4 Published outcomes were inconsistent, and therefore surgeons should propose this option only for carpal tunnel syndrome diagnosed by nerve conduction studies. The diagnosis should be confirmed by comparing the nerve conduction speed of the median nerve of the affected side with the contralateral side or the homolateral ulnar nerve.10 The role of surgery is supportive and resembles the palliative treatment of intrinsic wasting in other conditions. The difference is that forearm muscles will weaken in CMT. However, muscles innervated by the radial nerve are the last to be affected and are therefore more suitable for transfer. J Hand Surg Am.
r
According to the literature, treatment options may be divided into joint stabilization and tendon transfers. Thumb stabilization In the presence of thenar atrophy, the thumb should be stabilized. Metacarpophalangeal fusion is recommended, and if thenar muscles and pinch are weak, trapeziometacarpal and/or interphalangeal joint fusion can complete thumb stabilization.4 Thumb opposition Some authors have proposed several types of opponensplasties (Table 1).4,5 Because radial innervated muscles are the last to be affected, extensor carpi ulnaris transfer to extensor pollicis brevis seems a logical choice. Pinch reinforcement and index stabilization Wood et al4 proposed reinforcement of the pinch by transferring the extensor indicis proprius around the third metacarpal to the adductor pollicis. Alternatively, they proposed transferring a slip of abductor pollicis longus or extensor pollicis brevis (if the metacarpophalangeal joint is fused) to the first dorsal interosseous muscle. Finger clawing Treatment of clawing may include static or dynamic procedures (Table 2). Static procedures include primarily Zancolli volar plate advancement, which corrects the deformity but may stretch with time. Other static procedures include tenodeses with or without tendon grafts.6 Dynamic procedures are represented primarily by the Zancolli lasso technique. Other techniques propose the use of flexor digitorum superficialis (FDS). However, flexor muscles are affected early in the course of the disease, and therefore Paul Brand’s extensor carpi radialis brevis transfer with intercalated grafts to the extensor digitorum’s lateral bands is a useful alternative.11 Vol 38, December 2013
In Brief
TABLE 1.
2484
TABLE 2.
HAND TREATMENT IN CHARCOTeMARIEeTOOTH DISEASE
well-indicated procedure, referrals from neurologists are limited, mainly because of their concerns that the donor muscles will weaken as the disease progresses. This is unavoidable; nevertheless, surgery prolongs dexterity and autonomy. We believe that CMT patients should be categorized into the following 2 groups: patients with active forearm muscles (usually younger patients) and patients with no active muscles (older patients). For patients in the first group, muscle transfers should be proposed as initial treatment, considering that radial innervated muscles are the last to be affected. A preoperative electromyography is essential for proper preoperative decision making.13 When the effect of the muscle transfer dissipates, static procedures may help to reduce clawing deformation and prolong dexterity. For patients in the second group, we propose only static hand procedures for palliation.
Surgical Treatment for Clawing Clawing Treatment
Static procedure Zancolli 1
Volar plate advancement
Riordan tenodesis
ECU and ECRL proximally cut slips transferred to the fingers whilst remaining attached to the distant donor tendon’s insertion
Fowler tenodesis
Free tendon grafts (divided tendon graft inserted to the lateral bands of the index and middle finger looping the extensor retinaculum and inserted to the lateral bands of the ring and pinky finger)
Smith sling tenodesis
Tendon grafts connecting two fingers (looping the deep transverse metacarpal ligament)
Sirinivasan tenodesis
Tendon graft between finger and extrinsic extensor
Dynamic procedure
REFERENCES
Motor
Zancolli 2
Flexor digitorum superficialis lasso
Stiles/Bunnell/Littler
Flexor digitorum superficialis transfer to the fingers with or without grafts
Brand 1
Extensor carpi radialis brevis transfer to fingers with 4 tendon grafts
In Brief
Tendon transfers to the fingers for clawing correction may have 4 kinds of insertion: A1 pulley, A2 pulley, lateral band, or bone tunnel in proximal phalanx.
Our experience is limited; we have operated on 5 patients and 8 hands in the past 10 years. We performed a bilateral carpal tunnel release, 1 Littler FDS transfer to lateral bands, 1 Zancolli lasso, and 3 Zancolli capsulodeses. The Zancolli capsulodeses were associated with metacarpophalangeal joint fusion. Results were good and the patients were satisfied. The Littler FDS transfer weakened after 4 years; revision surgery with Zancolli capsulodesis was performed with satisfactory results. To help patients decide whether to proceed with the operation, surgery candidates had preoperative splinting to simulate the operation’s effect.12 Our limited experience is comparable to the few reports in the literature.4,5,10 Furthermore, we observed that even though patients benefit from a
J Hand Surg Am.
r
1. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 2009;8(7):654e667. 2. Burns J, Bray P, Cross LA, et al. Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord. 2008;18(12):970e973. 3. Videler AJ, Beelen A, van Schaik IN, et al. Limited upper limb functioning has impact on restrictions in participation and autonomy of patients with hereditary motor and sensory neuropathy 1a. J Rehabil Med. 2009;41(9):746e750. 4. Wood VE, Huene D, Nguyen J. Treatment of the upper limb in Charcot-Marie-Tooth disease. J Hand Surg Br. 1995;20(4):511e518. 5. Estilow T, Kozin SH, Glanzman AM, et al. Flexor digitorum superficialis opposition tendon transfer improves hand function in children with Charcot-Marie-Tooth disease: case series. Neuromuscul Disord. 2012;22(12):1090e1095. 6. Sapienza A, Green S. Correction of the claw hand. Hand Clin. 2012;28(1):53e66. 7. Schreuders TA, Selles RW, van Ginneken BT, et al. Sensory evaluation of the hands in patients with Charcot-Marie-Tooth disease using Semmes-Weinstein monofilaments. J Hand Ther. 2008;21(1): 28e34; quiz 35. 8. Burns J, Ouvrier RA, Yiu EM, et al. Ascorbic acid for CharcotMarie-Tooth disease type 1A in children: a randomised, doubleblind, placebo-controlled, safety and efficacy trial. Lancet Neurol. 2009;8(6):537e544. 9. Young P, De Jonghe P, Stogbauer F, et al. Treatment for CharcotMarie-Tooth disease. Cochrane Database Syst Rev. 2008:CD006052. 10. Chalekson CP, Brown RE, Gelber DA, et al. Nerve decompression at the wrist in patients with Charcot-Marie-Tooth disease. Plast Reconstr Surg. 1999;104(4):999e1002. 11. Riordan DC. Tendon transfers in hand surgery. J Hand Surg Am. 1983;8(5 Pt 2):748e753. 12. Videler A, Eijffinger E, Nollet F, et al. A thumb opposition splint to improve manual dexterity and upper-limb functioning in CharcotMarie-Tooth disease. J Rehabil Med. 2012;44(3):249e253. 13. Mackin GA, Gordon MJ, Neville HE, et al. Restoring hand function in patients with severe polyneuropathy: the role of electromyography before tendon transfer surgery. J Hand Surg Am. 1999;24(4): 732e742.
Vol 38, December 2013