Charcot-Marie-Tooth Hastalığında Ortez Yaklaşımları
Özet
Charcot-Marie-Tooth (CMT) distal kas zayıflığı ve duyusal kayıp ile karakterize en yaygın herediter periferik nöropatidir. Hastalık genellikle hayatın ilk iki dekadında ortaya çıkmakta ve yavaş bir progresyon göstermektedir. CMT1 ve CMTX en sık olmakla birlikte birçok formu bulunmaktadır. Bu formların belirlenmesinde klinik fenotipi tanımlama, elektrofizyolojik inceleme ve moleküler analiz gibi yöntemler kullanılmaktadır. Hastanın fonksiyonel durumu, hastalık progresyonu ve uygulanan tedavilerin etkinliğini belirlemek için CMT İnfant Skalası, CMT Pediatrik Skalası ve CMT Nöropati Skoru gibi hastalığa spesifik sonuç ölçümleri mevcuttur. Net bir tedavisi olmayan CMT’de fizyoterapi ve rehabilitasyon hastalık yönetiminde önemli bir yer tutmaktadır. Deformiteleri düzeltme, instabiliteyi önleme ve zayıf kasları destekleme görevleri olan ortezler fizyoterapi ve rehabilitasyon modalitelerinden birisidir. CMT’de hastanın rehabilitasyonu için çok farklı ortez yaklaşımı olmasına rağmen en sık tercih edilen ayak bileği-ayak ortezlerinin eklem hareket açıklığı, yürüyüş özellikleri, eklem stabilitesi ve denge üzerine olumlu etkileri bulunmaktadır. Bu etkileri optimize etmek için ortez yaklaşımlarının medikal tedavi ve diğer fizyoterapi ve rehabilitasyon modaliteleri ile kombine bir şekilde uygulanması önerilmektedir.
Referanslar
Morena J, Gupta A, Hoyle JC. Charcot-Marie-Tooth: from molecules to therapy. International Journal of Molecular Sciences; 2019;20(14):3419. doi:10.3390/ijms20143419
Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease. The Lancet Neurology; 2009;8(7):654-67. doi:10.1016/s1474-4422(09)70110-3
Attal N, Bouhassira D. Advances in the treatment of neuropathic pain. Current Opinion in Neurology; 2021;34(5):631-7. doi: 10.1097/WCO.0000000000000980
Shy ME, Lupski JR, Chance PF, et al. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. Peripheral Neuropathy: 2-Volume Set with Expert Consult Basic; 2005:1623-58. doi:10.1016/B978-0-7216-9491-7.50072-7
Martyn C, Hughes R. Epidemiology of peripheral neuropathy. Journal of Neurology, Neurosurgery, and Psychiatry; 1997;62(4):310. doi: 10.1136/jnnp.62.4.310
Scherer SS, Wrabetz L. Molecular mechanisms of inherited demyelinating neuropathies. Glia; 2008;56(14):1578-89. doi:10.1002/glia.20751
Pareyson D, Scaioli V, Laura M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Medicine; 2006;8(1):3-22. doi:10.1385/nmm:8:1:3
Jani-Acsadi A, Krajewski K, Shy ME, editors. Charcot-Marie-Tooth neuropathies: diagnosis and management. Seminars in neurology: © Thieme Medical Publishers; 2008.
Barisic N, Claeys K, Sirotković‐Skerlev M, et al. Charcot‐marie‐tooth disease: a clinico‐genetic confrontation. Annals of Human Genetics; 2008;72(3):416-41. doi:10.1111/j.1469-1809.2007.00412.x
Reilly MM. Sorting out the inherited neuropathies. Practical Neurology; 2007;7(2):93-105.
Szigeti K, Lupski JR. Charcot–marie–tooth disease. European Journal of Human Genetics; 2009;17(6):703-10. doi:10.1038/ejhg.2009.31
Vallat J-M, Tazir M, Magdelaine C, et al. Autosomal-recessive Charcot-Marie-Tooth diseases. Journal of Neuropathology and Experimental Neurology; 2005;64(5):363-70. doi:10.1093/jnen/64.5.363
Mori L, Prada V, Signori A, et al. Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects. Europena Journal Physical and Rehabilitation Medicine. 2019;55(1):47-55. doi:10.23736/s1973-9087.18.05111-0
Shy M, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology; 2005;64(7):1209-14. doi:10.1212/01.wnl.0000216104.34658.82
Murphy SM, Herrmann DN, McDermott MP, et al. Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease. Journal of the Peripheral Nervous System; 2011;16(3):191-8. doi:10.1111/j.1529-8027.2011.00350.x
Burns J, Ouvrier R, Estilow T, et al. Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability. Annals of Neurology; 2012;71(5):642-52. doi:10.1002/ana.23572
Mandarakas MR, Menezes MP, Rose KJ, et al. Development and validation of the Charcot-Marie-Tooth disease infant scale. Brain. 2018;141(12):3319-30. doi.org/10.1093/brain/awy280
Eichinger K, Burns J, Cornett K, et al. The Charcot-Marie-tooth functional outcome measure (CMT-FOM). Neurology; 2018;91(15):e1381-e4. doi:10.1212/wnl.0000000000006323
Johnson NE, Heatwole C, Creigh P, et al. The Charcot–Marie–Tooth Health Index: Evaluation of a Patient‐Reported Outcome. Annals of Neurology; 2018;84(2):225-33. doi:10.1002/ana.25282
Ramchandren S, Wu TT, Finkel RS, et al. Development and validation of the pediatric Charcot–Marie–Tooth disease quality of life outcome measure. Annals of Neurology; 2021;89(2):369-79. doi:10.1002/ana.25966
Wu TT, Finkel RS, Siskind CE, et al. Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure. Journal of the Peripheral Nervous System; 2023;28(2):237-51. doi:10.1111/jns.12538
Wu TT, Finkel RS, Siskind CE, et al. Validation of the parent‐proxy version of the pediatric Charcot‐Marie‐Tooth disease quality of life instrument for children aged 0–7 years. Journal of the Peripheral Nervous System; 2023;28(3):382-9. doi:10.1111/jns.12557
Rossor A, Shy M, Reilly M. Are we prepared for clinical trials in Charcot-Marie-Tooth disease? Brain Research; 2020;1729:146625. doi:10.1016/j.brainres.2019.146625
Bjelica B, Peric S, Basta I, et al. Neuropathic pain in patients with Charcot-Marie-Tooth type 1A. Neurological Sciences; 2020;41(3):625-30. doi:10.1007/s10072-019-04142-5
Mascaró RS, Sobrino TG, Hernández AH, et al. Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease. Neurología (English Edition); 2025;40(3):290-305. oi.org/10.1016/j.nrleng.2024.02.008
Gess B, Baets J, De Jonghe P, et al. Ascorbic acid for the treatment of Charcot‐Marie‐Tooth disease. Cochrane Database of Systematic Reviews; 1996;2015(12). doi:10.1002/14651858.CD011952
Laurá M, Singh D, Ramdharry G, et al. Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease. Muscle & Nerve; 2018;57(2):255-9. doi:10.1002/mus.25724
Wagner E, Wagner P, Zanolli D, et al. Biomechanical evaluation of circumtibial and transmembranous routes for posterior tibial tendon transfer for dropfoot. Foot & Ankle International; 2018;39(7):843-9. doi:10.1177/1071100718760845
Reilly MM, Pareyson D, Burns J, et al. 221st ENMC International Workshop: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands. Neuromuscular Disorders; 2017;27(12):1138-42. doi:10.1016/j.nmd.2017.09.005
Kaplan JR, Aiyer A, Cerrato RA, et al. Operative treatment of the cavovarus foot. Foot & Ankle International. 2018;39(11):1370-82. doi:10.1177/1071100718798817
Karol LA, Elerson E. Scoliosis in patients with Charcot-Marie-Tooth disease. Journal of Bone & Joint Surgery. 2007;89(7):1504-10. doi: 10.2106/JBJS.F.01161
Beloribi-Djefaflia S, Attarian S. Treatment of charcot-marie-tooth neuropathies. Revue Neurologique. 2023;179(1-2):35-48. doi:10.1016/j.neurol.2022.11.006
Lindeman E, Leffers P, Spaans F, et al. Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial. Archives of Physical Medicine and Rehabilitation; 1995;76(7):612-20. doi:10.1016/s0003-9993(95)80629-6
Chetlin RD, Gutmann L, Tarnopolsky M, et al. Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for exercise prescription. Archives of Physical Medicine and Rehabilitation; 2004;85(8):1217-23. doi:10.1016/j.apmr.2003.12.025
Smith CA, Chetlin RD, Gutmann L, et al. Effects of exercise and creatine on myosin heavy chain isoform composition in patients with Charcot–Marie–Tooth disease. Muscle & Nerve; 2006;34(5):586-94. doi:10.1002/mus.20621
Burns J, Raymond J, Ouvrier R. Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease. Neuromuscular Disorders; 2009;19(12):818-21. doi:10.1016/j.nmd.2009.09.007
Ramdharry GM, Pollard A, Anderson C, et al. A pilot study of proximal strength training in Charcot‐Marie‐Tooth disease. Journal of the Peripheral Nervous System; 2014;19(4):328-32. doi:10.1111/jns.12100
Yiu EM, Bray P, Baets J, et al. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery & Psychiatry; 2022;93(5):530-8. doi:10.1136/jnnp-2021-328483
El Mhandi L, Millet GY, Calmels P, et al. Benefits of interval‐training on fatigue and functional capacities in Charcot–Marie–Tooth disease. Muscle & Nerve; 2008;37(5):601-10. doi:10.1002/mus.20959
Florence JM, Hagberg JM. Effect of training on the exercise responses of neuromuscular disease patients. Medicine and Science in Sports and Exercise; 1984;16(5):460-5. doi:10.1249/00005768-198410000-00007
Wallace A, Pietrusz A, Dewar E, et al. Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity. Neurology; 2019;92(15):e1773-e85. doi:10.1212/wnl.0000000000007265
Paz G. Massage therapy treatment and outcomes in a patient with Charcot-Marie-Tooth disease: A case report. Journal of Bodywork and Movement Therapies; 2020;24(2):130-7. doi:10.1016/j.jbmt.2019.10.014
Matjacić Z, Zupan A. Effects of dynamic balance training during standing and stepping in patients with hereditary sensory motor neuropathy. Disability and Rehabilitation; 2006;28(23):1455-9. doi:10.1080/09638280600646169
Maggi G, Bragadin MM, Padua L, et al. Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. American Journal of Physical Medicine & Rehabilitation; 2011;90(8):628-37. doi:10.1097/phm.0b013e31821f6e32
Mori L, Signori A, Prada V, et al. Treadmill training in patients affected by Charcot–Marie–tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study. European Journal of Neurology; 2020;27(2):280-7. doi:10.1111/ene.14074
Souza CC, da Silva Vallim JR, de Aquino Neves EL, et al. The impact of pain and nocturnal cramps on sleep quality in Charcot Marie Tooth disease: a case-control study. Sleep Science; 2022;15(01):41-6. doi.org/10.5935/1984-0063.20210025
Lindeman E, Spaans F, Reulen J, et al. Progressive resistance training in neuromuscular patients. Effects on force and surface EMG. Journal of Electromyography and Kinesiology; 1999;9(6):379-84. doi:10.1016/s1050-6411(99)00003-6
Burns J, Sman AD, Cornett KM, et al. Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial. The Lancet Child & Adolescent Health; 2017;1(2):106-13. doi:10.1016/s2352-4642(17)30013-5
Bertini A, Manganelli F, Fabrizi GM, et al. Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery & Psychiatry. 2024;95(5):434-41. doi:10.1136/jnnp-2023-332422
Scheffers G, Hiller C, Refshauge K, et al. Prescription of foot and ankle orthoses for children with Charcot–Marie–tooth disease: a review of the evidence. Physical Therapy Reviews; 2012;17(2):79-90. doi:10.1179/1743288x11y.0000000052
Guillebastre B, Calmels P, Rougier PR. Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease. American Journal of Physical Medicine & Rehabilitation; 2011;90(8):619-27. doi:10.1097/phm.0b013e31821f7172
Corrado B, Ciardi G, Bargigli C. Rehabilitation management of the Charcot–Marie–tooth syndrome: a systematic review of the literature. Medicine; 2016;95(17):e3278. doi:10.1097/md.0000000000003278
Kim A, Frecklington M, Philps A, et al. The effect of ankle‐foot orthoses on gait characteristics in people with Charcot‐Marie‐Tooth disease: A systematic review and meta‐analysis. Journal of Foot and Ankle Research. 2024;17(3):e70003. doi:10.1002/jfa2.70003
Refshauge KM, Raymond J, Nicholson G, et al. Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial. Australian Journal of Physiotherapy; 2006;52(3):193-9. doi:10.1016/s0004-9514(06)70028-9
Ramdharry GM, Day BL, Reilly MM, et al. Foot drop splints improve proximal as well as distal leg control during gait in Charcot‐Marie‐Tooth Disease. Muscle & Nerve; 2012;46(4):512-9. doi:10.1002/mus.23348
Borghi C, Sassi S, Pandarese D, et al. Effect of ankle-foot orthoses in pediatric patients with hereditary motor-sensory neuropathy: A case series study. Children; 2023;10(9):1529. doi:10.3390/children10091529
Dufek JS, Neumann ES, Hawkins MC, et al. Functional and dynamic response characteristics of a custom composite ankle foot orthosis for Charcot–Marie–Tooth patients. Gait & Posture; 2014;39(1):308-13. doi:10.1016/j.gaitpost.2013.07.121
Õunpuu S, Garibay E, Acsadi G, et al. The impact of orthoses on gait in children with Charcot-Marie-Tooth disease. Gait & Posture; 2021;85:198-204. doi:10.1016/j.gaitpost.2021.02.005
Pereira RB, Felício LR, Ferreira AdS, et al. Immediate effects of using ankle-foot orthoses in the kinematics of gait and in the balance reactions in Charcot-Marie-Tooth disease. Fisioterapia e Pesquisa; 2014;21(01):87-93. doi:10.1590/1809-2950/515210114
Phillips M, Radford K, Wills A. Ankle foot orthoses for people with Charcot Marie Tooth disease–views of users and orthotists on important aspects of use. Disability and Rehabilitation: Assistive Technology; 2011;6(6):491-9. doi:10.3109/17483107.2010.549899
Wojciechowski EA, Cheng TL, Hogan SM, et al. Replicating and redesigning ankle-foot orthoses with 3D printing for children with Charcot-Marie-Tooth disease. Gait & Posture; 2022;96:73-80. doi:10.1016/j.gaitpost.2022.05.006
Videler A, Eijffinger E, Nollet F, et al. A thumb opposition splint to improve manual dexterity and upper-limb functioning in Charcot-Marie-Tooth disease. Journal of Rehabilitation Medicine; 2012;44(3):249-53. doi:10.2340/16501977-0932
Vinci P, Serrao M, Millul A, et al. Quality of life in patients with Charcot–Marie–Tooth disease. Neurology; 2005;65(6):922-4. doi:10.1212/01.wnl.0000176062.44360.49
Vinci P, Gargiulo P. Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease. European Journal of Physical and Rehabilitation Medicine; 2008;44(1):27-31.