Rehabilitation Management of the Charcot–Marie–Tooth Syndrome

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.

Physical activity and exercise interventions for people with rare neurological disorders: a scoping review of systematic reviews

“…In most reviews, authors warranted further research for more definitive answers on intervention effectiveness. However, in Charcot-Marie-Tooth disease and cerebellar ataxias, there was low to moderate evidence of efficacy of structured exercise (41,42,47,48) whilst, in MND, structured exercise was recommended for inclusion in rehabilitation and management of these diseases (29,36).…”

“…Details on intervention intensity and frequency were not routinely reported, especially in the MND and ataxiareviews. Number of reviews per condition and FITT characteristics for combined interventionsTen reviews(25,27,43,(45)(46)(47)(48)(49)(50)(51) addressed the effect of combined interventions in individuals with NMDs (Charcot-Marie-Tooth disease, Guillain-Barre´ Syndrome, myotonic dystrophy and Welander distal myopathy, idiopathic inflammatory myopathy, post-polio syndrome, Welander distal myopathy, polymyositis and dermatomyositis, facioscapulohumeral muscular dystrophy, mitochondrial myopathy, critical illness myopathy and polyneuropathy). Combined interventions in NMDs included: hand exercises (i.e.…”

Actualización en el abordaje ortoprotésico en las Enfermedades de Charcot-Marie-Tooth

“…En dicho trabajo de casos y controles, valoraron las posibles diferencias entre los zapatos cotidianos, las AFO elásticas y las AFO rígidas. Estas últimas fueron las que demostraron mejores resultados en el incremento del control postural y de la marcha, mientras que las elásticas tuvieron mayor efecto sobre el control dinámico de la deambulación (19).…”

Long‐term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot‐Marie‐Tooth disease: A retrospective study

“…Typical signs of the disease are foot-drop, horse-like or toe-heel gait, ankle instability, postural instability, and increased risk of falls. 2,3 CMT also includes a sensorial (proprioceptive) deficit of the lower and upper limbs and symptoms such as cramps, asthenia, and neuropathic pain. 4 The disease is degenerative and usually shows a slow progression, involving the hands and the respiratory functions, consequently decreasing the patient's quality of life significantly.…”

“…This includes physiotherapy to maintain joint mobility, to increase muscle strength, and to improve both postural control and endurance; the use of orthoses to enhance walking efficiency, and foot functional surgery (FS) to correct ankle deformities and to improve gait functionality. 2,[7][8][9][10][11][12][13][14][15] The real benefit to the surgical approach is in striving to restore the physiological tibiotarsal and foot joint biomechanics and the correct rockers of gait as best as possible. Surgical procedures have been progressively improving since the late 1970s, based also on the surgeon's personal preferences and schools of thought.…”