Rehabilitation in Charcot- Marie- Tooth disease type 1 . Characteristic clinical findings include distally pronounced muscle wasting, secondary skeletal deformities, sensory loss and reduced deep tendon reflexes. The individual clinical phenotypes vary, even among monozygotic twins. They range from sub- clinical manifestations to rare cases of wheelchair- bound patients. Overall, the quality of life is significantly impaired. It may affect the whole body or any of its parts, and its. Physical therapy and moderate exercise are positively disease-modifying in CMT1A; Overwork weakness and fatigue need to be considered but should not prevent. Despite ongoing research, no curative treatments are currently available. A recently published ascorbic acid trial showed no significant effect on the clinical phenotype of CMT1. A patients. 9,3. 2,3. Nevertheless, physical therapy and moderate exercises are proven to be positively disease- modifying. Lower weight in seniors is associated with an increased risk of dementia, and weight loss correlated with a more rapid decline in Alzheimer's disease, new research. Charcot arthropathy, also known as Charcot foot and ankle, is a syndrome in patients who have neuropathy or loss of sensation. It includes fractures and.
While a cure lies beyond the scope of physical therapy, it may prevent the rapid aggravation of the clinical phenotype. Recent studies suggest that CMT patients experience physical as well as mental benefit from rehabilitation programmes, but they also perceive that the performed exercises were not specifically designed to their needs. In fact there is little evidenced- based data and no common consensus on rehabilitation in patients suffering from Charcot- Marie- Tooth disease. Rehabilitation. Overwork weakness and fatigue. The use of physical therapy in CMT used to be a controversial matter in the recent past due to the report of fatigue and overwork weakness. However, a recent study examining the bilateral intrinsic hand and leg muscle strength in 2. CMT1. A patients showed no difference between the dominant and the non- dominant side. This data does not support the hypothesis of overwork weakness in CMT1. A and strongly argues for physical activity and rehabilitation. While fatigue does exist in CMT as in other neuromuscular diseases,1. Ramdharry et al., 2. Randomised, controlled studies have previously shown the positive effect of moderate exercise in CMT populations (Chetlin et al., 2. Lindeman et al., 1. Carter et al., 2. El- Abassi et al., 2. Furthermore, exercising should be encouraged, since a sedentary life- style and secondary weight gain deteriorate symptoms in CMT patients. Bracing. The characteristic pes cavus formation in patients with Charcot- Marie- Tooth disease is due to a plantar flexion deformity of the first metatarsal bone. Initially, an imbalance between the M. They also facilitate stretching and minimise the later development of a neuropathic Charcot joint. Yet, a prospective clinical trial revealed that the range of motion (ROM) and intrinsic strength remain unchanged. When testing the effect of muscle strength in foot dorsal and plantar flexion the use of a dynamometry fixation device is generally recommended. Resistance training and creatine supplementation. In an observational clinical trial with 2. CMT patients, the participants received resistance training either with or without additional creatine monohydrate supplementation. After an initial baseline assessment, patients underwent 1. The exercises were performed with adjustable wrist and ankle weights, according to the individual baseline strength. Special focus was given to knee extensors / flexors and elbow extensors / flexors exercises. The intensity of training was systematically increased in terms of weight and number of repetitions. Patients tolerated this moderate exercise well and showed high compliance. The training sessions significantly improved the activity of daily life (ADL) and strength. However, no differences in performance were observed when comparing patients with or without creatine monohydrate supplementation. A follow- up study 2. The functional abilities on the other hand, were only lost in those who discontinued their training. As a conclusion – despite inevitable loss in strength – functional gains can only be maintained by continuous exercise. Tre. SPE Rehabilitation programme. In a more recent pilot study, patients suffering from several types of CMT underwent a rigorous exercise regimen including treadmill, stretching, respiratory and proprioceptive exercises (Tre. SPE). The moderate- intensity aerobic exercises were performed twice per week for a duration of two months. After a washout of six months the baseline assessment was repeated. The assessment included a battery of outcome measures, including the MRC scale for lower limb strength, Tinetti Balance scale, Physical Performance Battery, ankle angle, oxygen consumption, complete lung function testing, peak treadmill velocity/slope, time to walk 6m and the Charcot- Marie- Tooth Neuropathy Score. In comparison to a healthy control group, no significant pulmonary differences were observed. Fatigue and overwork- weakness, that would prohibit aerobic exercises in CMT patients, did not occur. Nearly all tested parameters showed improvement after Tre. SPE, though mainly not statistically significant. The authors partially justify this circumstance with the small number of participants (n=8). Furthermore, they do not recommend usage of the Charcot- Marie- Tooth Neuropathy Score as well as the MRC scale for post- rehabilitation controls, since subtle improvements could not be detected with these measures. However, after 6 months of washout, most clinical measures began to deteriorate again without undercutting the baseline values. Thus, a repetition of Tre. SPE- training within six months is generally recommended to merely maintain clinical abilities. Quality of Life. Clinical approaches towards the improvement of the conceptual idea of . A recently published meta- analysis of 2. A holistic approach towards rehabilitation in CMT could therefore include voluntary psychological guidance, coping strategies for sensory loss and neuropathic pain, vocational rehabilitation, as well as genetic counselling. Outlook: Biomarkers. Despite its monogenetic cause, patients with CMT1. A display a marked interindividual variability of disease severity. The underlying reason for this variability is largely unknown and epigenetic factors have been discussed. At present, the assessment of the individual disease severity in patients with CMT1. A is performed solely by clinical and electrophysiological examinations. The CMT neuropathy score (CMTNS) is a nine item composite scale taking into account sensory and motor symptoms. The CMTNS is widely applied as a primary outcome measure in clinical trials. The CMTNS ranges from 0 (good clinical performance) to 3. CMT1. A. 2. 7 An even slower progression was reported within a recent therapy trial with ascorbic acid (0. In light of the slow disease progression, insensitive outcome measures may increase the risk of false negative results in clinical trials. Recently, we were able to show in a large Europe- wide, clinical prospective study that certain secondary clinical outcome measures, e. CMT1. A- patients and could improve current scoring systems. In near future biomarkers will provide powerful tools to monitor therapeutic effects. They could also be used to quantify the effectiveness of applying physical therapy. These Biomarkers may not only serve as sensitive surrogate markers of clinical disease severity, but also identify responders to a putative therapy. CMT rats recapitulate the striking disease variability observed in patients with CMT1. A. In a proof of principle study we have demonstrated that the expression levels of selected genes in sciatic nerve and skin tissue can be utilised to measure and predict the disease severity in CMT rats. Importantly, we validated these disease severity markers in skin biopsies of 4. CMT1. A. 3. 0 At the moment, these markers are examined with regard to disease progression within a large pan- European consortium. In the near future we hope to provide the clinical practice with applicable biomarkers which in turn may accelerate the development of a therapy for CMT1. A. Importantly, other sensitive outcome measures including skeletal muscle MRI magnetisation ratios are currently being developed. Summary. As no curative treatment is yet established for any type of Charcot- Marie- Tooth disease, rehabilitation and physical therapy remain the only positively disease- modifying measures to date. However, much needed evidence- based data on rehabilitation is scarce and former concerns against rehabilitation measures on the grounds of fatigue and overwork weakness can be dismissed in favour of symptom alleviating, moderate aerobic exercises. Even resistance training with light weights on ankles and wrists showed promising results. Due to the slowly progressive nature of the disease, recent studies stress the importance of continuing exercises at home, in order to maintain individual physical abilities. Randomised clinical trials with sensitive outcome measures (e. Genetic and clinical aspects of Charcot- Marie- Tooth’s disease. Genet 1. 97. 4; 6(2): 9. Lupski JR, de Oca- Luna RM, Slaugenhaupt S, Pentao L, Guzzetta, Trask BJ. DNA duplication associated with Charcot- Marie- Tooth disease type 1. A. Cell 1. 99. 1; 6(2): 2. Nelis E, van Broeckhoven C, Jonghe P de,L. Estimation of the mutation frequencies in Charcot- Marie- Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Genet 1. 99. 6: 4(1): 2. Pareyson D, Scaioli V, Laur. Clinical and electrophysiological aspects of Charcot- Marie- Tooth disease. Neuromolecular Med 2. DOI: 1. 0. 1. 38. NMM: 8: 1: 1. 23. Reilly MM, Murphy SM, Laur. Charcot- Marie- Tooth disease. DOI: 1. 0. 1. 11. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR. Clinical variability in two pairs of identical twins with the Charcot- Marie- Tooth disease type 1. A duplication. Neurology 1. Redmond AC, Burns J, Ouvrier RA. Factors that influence health- related quality of life in Australian adults with Charcot- Marie- Tooth disease. Neuromuscul. 2. 00. DOI: 1. 0. 1. 01. El- Abassi R, England JD, Carter GT. Charcot- Marie- Tooth Disease: An Overview of Genotypes, Phenotypes, and Clinical Management Strategies. DOI: 1. 0. 1. 01. What is Charcot- Marie- Tooth Disease (CMT)? Charcot- Marie- Tooth disease is a genetic disease of the nerves that affects 1 in 2,5. United States. People with this condition experience muscle weakness, particularly in the arms and legs. These nerves are outside the main central nervous system (CNS), and they control the muscles and relay data from the arms and legs to the brain, allowing a person to sense touch. Its name comes from the physicians who first described it: Jean Charcot, Pierre Marie, and Howard Henry Tooth. The patient develops . A peripheral nerve consists of two main parts, the axon, which is the inside of the nerve, and the myelin sheath, which is the protective layer around the axon. In CMT1, mutated, or faulty, genes cause the myelin sheath to disintegrate. As the myelin sheath wastes away, eventually the axon becomes damaged and the patient's muscles no longer receive clear messages from the brain. This results in muscle weakness and loss of sensation, or numbness. The signals are not transmitted strongly enough to activate muscles and senses, so patients have weaker muscles and a poorer sense of touch, or numbness. CMT 2 accounts for around 1. Damage to the myelin sheath leads to severe muscle weakness, and the sense of touch is also affected severely. Symptoms may be noticeable in children. Symptoms generally appear during childhood, and patients often need a wheelchair. It is more common in males. A female with CMT X will have very mild symptoms. Electrodes are placed on the skin, and these deliver tiny electric shocks that stimulate the nerves. A delayed or weak response suggests a nerve disorder, and possibly CMT. As the patient relaxes or tightens the muscle, electrical activity is measured. Testing different muscles will reveal which ones are affected. This may show whether the patient carries the faulty gene, or genes. TCAs are normally used to treat depression, but they may alleviate neuropathic pain symptoms. However, they may have side effects. Physical therapy uses low- impact exercises to help strengthen and stretch the muscles. This can help to maintain muscle strength for longer and prevent muscle tightening. Shoes with high tops or special boots provide extra ankle support, and special shoes or shoe inserts can improve gait. Thumb splints may help with dexterity. Surgery can correct flat feet, relieve joint pain and correct heel deformities. The patient may need bronchodilator medication or a ventilator. Being overweight or obese may make breathing worse. These include taking good care of the feet, as there is an increased risk of injury and infection, avoiding caffeine and tobacco, and not drinking too much alcohol.
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