Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature

Bruno Corrado, Gianluca Ciardi, Chiara Bargigli, Bruno Corrado, Gianluca Ciardi, Chiara Bargigli

Abstract

The Charcot-Marie-Tooth disease (CMT) causes significant muscular deficits in the affected patients, restricts daily activities (ADL), and involves a severe disability. Although the conservative intervention is the only treatment for the disease, there is no scientific evidence so far on rehabilitation treatment. Objectives of the review are: research the best literary evidence so far on the rehabilitation treatment of CMT; critically analyze the outcome, to build an evidence-based work protocol.A systematic review of the rehabilitation of a patient with CMT, including the results from the following databases: Pubmed, Medline, Embase, Pedro, Cinahl, Ebsco discovery. Criteria for inclusion: randomized/controlled studies, analytic studies, transversal studies on a cohort of at least 10 individuals; medium/long-term report of the results.Eleven studies in total have been admitted to the final review phase; trials about physiotherapy CMT treatment (5), about orthosis treatment (6). Despite the wide range of outcomes and proposed interventions, the data points to the following: strength or endurance trainings improve functionality and ADLs of affected patients, while orthotic role is, at the moment, not completely clear.Physiotherapy treatment is a useful tool to manage CMT; more studies on a larger number of cases are needed to define orthosis utility and to establish the gold standard of the treatment.

Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

FIGURE 1
FIGURE 1
Flowchart of the study. The diagram reports the process of screening and choice applied to the results from all databases; starting by 2056 articles, only 11 were admitted at the last phase of the review.

References

    1. Newman CJ, Walsh M, O'Sullivan R, et al. The characteristics of gait in Charcot-Marie-Tooth disease types I and II. Gait Posture 2007; 26:120–127.
    1. Militerni R. Infant neuropsychiatry. 4th edition2009; Naples, Italy: Edizioni Idelson-Gnocchi, 160–171.
    1. Horacek O, Mazanec R, Morris CE, et al. Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. Spine 2007; 32:2502–2508.
    1. Kars HJJ, Hijmans JM, Geertzen JHB, et al. The effect of reduced somatosensation on standing balance: a systematic review. J Diabetes Sci Technol 2009; 3:931–943.
    1. van der Linden MH, van der Linden SC, Hendricks HT, et al. Postural instability in Charcot-Marie-Tooth type 1A patients is strongly associated with reduced somatosensation. Gait Posture 2010; 31:483–488.
    1. Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008; 131:3051–3061.
    1. Désarnaud F, Do Thi AN, Brown AM, et al. Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells. J Neurochem 1998; 71:1765–1768.
    1. Eldridge CF, Bunge MB, Bunge RP, et al. Differentiation of axon-related Schwann cells in vitro. Ascorbic acid regulates basal lamina assembly and myelin formation. J Cell Bio 1987; 105:1023–1034.
    1. Jerath NU, Shy ME. Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies. Biochim Biophys Acta 2015; 1852:667–668.
    1. Mutani R, Lopiano L, Durelli L, et al. Bergamini's neurology. Torino, Italy: cortina library editions; 2012.
    1. Chetlin RD, Gutmann L, Tarnopolsky M, et al. Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for exercise prescription. Arch Phys Med Rehab 2004; 85:1217–1223.
    1. Ramdharry GM, Pollard A, Anderson C, et al. A pilot study of proximal strength training in Charcot-Marie-Tooth disease. J Periph Nerv Syst 2014; 19:328–332.
    1. 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. Arch Phys Med Rehab 1995; 76:612–620.
    1. Lindeman E, Spaans F, Reulen J, et al. Progressive resistance training in neuromuscular patients. Effects on force and surface EMG. J Electromyogr Kinesiol 1999; 9:379–384.
    1. El Mhandi L, Pichot V, Calmels P, et al. Exercise training improves autonomic profiles in patient with Charcot –Marie–Tooth disease. Muscle Nerve 2011; 44:732–736.
    1. Guillebastre B, Calmels P, Rougier PR. Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease. Am J Phys Med Rehab 2011; 90:619–627.
    1. Rose KJ, Raymond J, Refshauge K, et al. Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial. J Physiother 2010; 56:113–119.
    1. 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. Aust J Physiother 2006; 52:193–199.
    1. 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; 46:512–519.
    1. 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. J Rehabil Med 2012; 44:249–253.
    1. Uygur F, Bek N, Kuklu B, et al. Orthotic management of the lower limb in children with hereditary motor sensory neuropathy (HMSN). Prosthet Orthot Int 2001; 25:139–143.
    1. Moher D, Liberati A, Tetzlaff J, et al. PRISMA Group. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Int J Surg 2010; 8:336–341.
    1. Sackley C, Disler PB, Turner-Stokes L, et al. Rehabilitation interventions for foot drop in neuromuscular disease. Cochrane Database Syst Rev 2009; 3:CD003908.
    1. Forrest G, Qian X. Exercise in neuromuscular disease. NeuroRehabilitation 1999; 13:135–139.
    1. Rose KJ, Burns J, Wheeler DM, et al. Interventions for increasing ankle range of motion in patients with neuromuscular disease. Cochrane Database Syst Rev 2010; 2:CD006973.
    1. 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. Phys Ther Rev 2012; 17:79–90.
    1. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot–Marie–Tooth disease. Lancet Neurol 2009; 8:654–667.
    1. Downs SH, Black N. The feasibility of creating a checklist for the assessment of the methodological quality both of randomised and non-randomised studies of health care interventions. J Epidemiol Community Health 1998; 52:377–384.

Source: PubMed

3
Subskrybuj