The effects of home exercise program on limb-girdle disease: a cohort study.

This study aims to demonstrate the effectiveness of rehabilitation in patients with limb-girdle disease, who were given a home exercise program and called for follow-up in certain periods by observing the functional areas of the shoulder and pelvic groups every six months. Suitable statistical methods were conducted. Descriptive findings and continuous variables regarding the patients were presented. As a result of the analyses, no statistically significant difference was found only in pre-treatment and post-treatment wrist strength and trunk extension variables, but a statistically significant difference was found between the pre-treatment and post-treatment scores of all other types of strength. Significant differences were found between the pre-treatment and post-treatment cervical flexion strength in terms of general weakness and inability to walk, joint limitation and walking status. It is believed that the rehabilitation method to be applied to patients with limb-girdle muscular dystrophy (LGMD) detected in the early period will provide effective results and may form the basis for referring them to physicians and health professionals. It has been concluded that rehabilitation will help them lead a comfortable life.

The effects of concentric and eccentric training in murine models of dysferlin-associated muscular dystrophy.

INTRODUCTION: Dysferlin-deficient murine muscle sustains severe damage after repeated eccentric contractions. METHODS: With a robotic dynamometer, we studied the response of dysferlin-sufficient and dysferlin-deficient mice to 12 weeks of concentrically or eccentrically biased contractions. We also studied whether concentric contractions before or after eccentric contractions reduced muscle damage in dysferlin-deficient mice. RESULTS: After 12 weeks of concentric training, there was no net gain in contractile force in dysferlin-sufficient or dysferlin-deficient mice, whereas eccentric training produced a net gain in force in both mouse strains. However, eccentric training induced more muscle damage in dysferlin-deficient vs dysferlin-sufficient mice. Although concentric training produced minimal muscle damage in dysferlin-deficient mice, it still led to a prominent increase in centrally nucleated fibers. Previous exposure to concentric contractions conferred slight protection on dysferlin-deficient muscle against damage from subsequent injurious eccentric contractions. DISCUSSION: Concentric contractions may help dysferlin-deficient muscle derive the benefits of exercise without inducing damage.

Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study.

Purpose: To describe perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support to manage daily life and using a wheelchair for ambulation, from the affected young adults' and their parents' perspectives. Method: A qualitative and descriptive study design was used. Semi-structured interviews were held with 14 young adults diagnosed with recessive limb-girdle muscular dystrophy and 19 parents. Phenomenography was used for data analysis. Results: The diagnosis was described as being a shock and difficult to comprehend but also as a relief and a tool for information. Beginning to use a wheelchair was perceived to be mentally difficult but it also provided freedom. New ways of living involved physical, emotional, practical, and social difficulties as well as experiences of learning to adapt to the disease. The transition was overshadowed by concern about disease progression and influenced by facilitating factors, which were young adult being seen as a person; supportive family and friends; mobilized internal resources; meaningful daily activities; adapted environment; and professional support. Conclusions: The different perceptions expressed in this study highlight the importance of identifying personal perceptions and needs in order to optimize support provided by healthcare professionals. Implications for Rehabilitation The different perceptions described in this study emphasize the need for person-centered care for young adults living with recessive limb-girdle muscular dystrophy and their parents. Regular controls and professional support to cope with the disease and its consequences should be offered, not only at the time of diagnosis but also throughout disease progression. Beginning to use a wheelchair can be a psychologically distressing process, which has to be acknowledged by healthcare professionals when introducing it. Healthcare professionals should not only recognize the importance of having social relations and activities that are meaningful but also be a link to authorities in society and to interest organizations that can help to facilitate the person's management of the disease.

Body weight-supported training in Becker and limb girdle 2I muscular dystrophy.

INTRODUCTION: We studied the functional effects of combined strength and aerobic anti-gravity training in severely affected patients with Becker and Limb-Girdle muscular dystrophies. METHODS: Eight patients performed 10-week progressive combined strength (squats, calf raises, lunges) and aerobic (walk/run, jogging in place or high knee-lift) training 3 times/week in a lower-body positive pressure environment. Closed-kinetic-chain leg muscle strength, isometric knee strength, rate of force development (RFD), and reaction time were evaluated. RESULTS: Baseline data indicated an intact neural activation pattern but showed compromised muscle contractile properties. Training (compliance 91%) improved functional leg muscle strength. Squat series performance increased 30%, calf raises 45%, and lunges 23%. CONCLUSIONS: Anti-gravity training improved closed-kinetic-chain leg muscle strength despite no changes in isometric knee extension strength and absolute RFD. The improved closed-kinetic-chain performance may relate to neural adaptation involving motor learning and/or improved muscle strength of other muscles than the weak knee extensors. Muscle Nerve 54: 239-243, 2016.

Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages.

Different genetic mutations underlying distinct pathogenic mechanisms have been identified as cause of muscle fibers degeneration and strength loss in limb girdle muscular dystrophies (LGMD). As a consequence, exercise tolerance is affected in patients with LGMD, either as a direct consequence of the loss of muscle fibers or secondary to the sedentary lifestyle due to the motor impairment. It has been debated for many years whether or not muscle exercise is beneficial or harmful for patients with myopathic disorders. In fact, muscular exercise would be considered in helping to hinder the loss of muscle tissue and strength. On the other hand, muscle structural defects in LGMD can result in instability of the sarcolemma, making it more likely to induce muscle damage as a consequence of intense muscle contraction, such as that performed during eccentric training. Several reports have suggested that supervised aerobic exercise training is safe and may be considered effective in improving oxidative capacity and muscle function in patients with LGMD, such as LGMD2I, LGMD2L, LGMD2A. More or less comfortable investigation methods applied to assess muscle function and structure can be useful to detect the beneficial effects of supervised training in LGMD. However, it is important to note that the available trials assessing muscle exercise in patients with LGMD have often involved a small number of patients, with a wide clinical heterogeneity and a different experimental design. Based on these considerations, resistance training can be considered part of the rehabilitation program for patients with a limb-girdle type of muscular dystrophy, but it should be strictly supervised to assess its effects and prevent possible development of muscle damage.

The effects of electrical stimulation and exercise therapy in patients with limb girdle muscular dystrophy. A controlled clinical trial.

OBJECTIVE: To evaluate and compare the effects of exercise therapy and electrical stimulation on muscle strength and functional activities in patients with limb-girdle muscular dystrophy (LGMD). METHODS: This controlled clinical trial included 24 subjects who were diagnosed with LGMD by the Neurology Department of the Hacettepe University Hospital, Ankara, Turkey and were referred to the Physical Therapy Department between May 2013 and December 2014. Subjects were enrolled into an electrical stimulation (11 patients) group, or an exercise therapy (13 patients) group. RESULTS: The mean age of patients was 31.62 years in the electrical stimulation group, and 30.14 years in the exercise therapy group. The most important results in this controlled clinical study were that the muscle strength in both groups was significantly decreased and post-treatment evaluation results indicated that muscle strength of the Deltoideus was higher in the electrical stimulation group, and the difference between the groups was maintained in the follow-up period (p<0.05). However, the muscle strength of quadriceps was similar in both groups, according to the post-treatment and follow-up evaluation results (p>0.05). Additionally, the electrical stimulation group presented more obvious overall improvements than the exercise therapy group according to muscle strength, endurance, and timed performance tests. CONCLUSION: Since no definitive treatments currently exist for patients with LGMD, these results provide important information on the role of exercise therapy and electrical stimulation for clinicians working in rehabilitation.

Upper extremity function and activity in facioscapulohumeral dystrophy and limb-girdle muscular dystrophies: a systematic review.

PURPOSE: The aims of this review were (1) to provide insight into the natural course of upper-extremity (UE) impairments and UE activity limitations associated with facioscapulohumeral dystrophy (FSHD) and limb-girdle muscular dystrophies (LGMD), and (2) to provide an overview of outcome measures used to evaluate UE function and activity in patients with FSHD and LGMD. METHODS: Scientific literature databases (PubMed, MEDLINE, EMBASE, CINAHL and Cochrane) were searched for relevant publications. INCLUSION CRITERIA: (1) studies that included persons with a diagnosis of FSHD or LGMD; and (2) studies that reported the natural course of the UE functions and/or activity with outcome measures at these levels. RESULTS: 247 publications were screened, of which 16 fulfilled the selection criteria. Most studies used manual muscle testing (MMT) to evaluate UE function and the Brooke Scale to evaluate UE mobility activities. The clinical picture of UE impairments and limitations of UE activities in FSHD and LGMD patients was highly variable. In general, FSHD and LGMD patients experience difficulty elevating their upper extremities and the execution of tasks takes considerably longer time. CONCLUSIONS: The clinical course of UE impairments and activity limitations associated with FSHD and LGMD is difficult to predict due to its high variability. Although measures like MMT and the Brooke Scale are often used, there is a lack of more specific outcome measures to assess UE function and UE capacity and performance in daily life. Measures such as 3D motion analysis and electromyography (EMG) recordings are recommended to provide additional insight in UE function. Questionnaires like the Abilhand are recommended to assess UE capacity and accelerometry to assess UE performance in daily life. IMPLICATIONS FOR REHABILITATION: There is a need for specific outcome measures on the level of UE activity. Both the level of capacity and performance should be assessed. Possible outcome measures include 3D motion analysis to assess UE function, questionnaires like the Abilhand to assess UE capacity and accelerometry to assess performance of UE activities in daily life.

Late-onset dysferlinopathy presented as "liver enzyme" abnormalities: a technical note.

Limb-girdle muscular dystrophy type 2B,a type of dysferlinopathy, is caused by mutations in the dysferlin gene (DYSE). It is characterized by predominant weakness and atrophy of muscles of the pelvic and shoulder girdles, massive elevation of serum CK concentration, slow progression, and onset usually within the second or third decade of life. We present a Chinese patient whose disease onset was at the age of 50 years with persistent elevation of transaminases for 3 years before weakness appeared. She had been considered as having liver disease for a long time and then polymyositis. Finally, biceps brachii biopsy revealed dystrophic morphology and depletion of dysferlin in immunohistochemistry. This case should remind readers that late-age onset of dysferlinopathy can be misdiagnosed as liver disease or polymyositis.

Aerobic training in patients with anoctamin 5 myopathy and hyperckemia.

INTRODUCTION: Anoctamin 5 deficiency has recently been defined to cause limb-girdle muscular dystrophy type 2L (LGMD2L) with pronounced hyperCKemia. No treatment interventions have been made so far in this condition. METHODS: In 6 patients with LGMD2L, we studied the effect of home-based, pulse-watch monitored, moderate-intensity exercise on a cycle ergometer for 30 minutes, 3 times weekly, for 10 weeks. Plasma creatine kinase (CK) was assessed before, during, and after the program as a marker of muscle damage. Primary outcome measures were maximum oxygen uptake (VO(2max)) and time in the 5-repetitions-sit-to-stand test (FRSTST). RESULTS: Training resulted in improvements in VO(2max) (27 ± 7%; P = 0.0001) and FRSTST time (35 ± 12%; P = 0.007). Improvements in physiologic and functional muscle testing were accompanied by stable CK levels and no reports of adverse effects. CONCLUSIONS: These findings suggest that supervised aerobic exercise training is safe and effective in improving oxidative capacity and muscle function in patients with anoctamin 5 deficiency.

Dual effects of exercise in dysferlinopathy.

Dysferlinopathy refers to a group of autosomal recessive muscular dystrophies due to mutations in the dysferlin gene causing deficiency of a membrane-bound protein crucially involved in plasma membrane repair. The condition is characterized by marked clinical heterogeneity, the different phenotypes/modes of presentation being unrelated to the genotype. For unknown reasons, patients are often remarkably active before the onset of symptoms. Dysferlin deficiency-related persistence of mechanically induced sarcolemma disruptions causes myofiber damage and necrosis. We postulate that limited myodamage may initially remain hidden with well-preserved resistance to physical strains. By subjecting dysferlin-deficient B6.A/J-Dysf(prmd) mice to long-term swimming exercise, we observed that concentric/isometric strain improved muscle strength and alleviated muscular dystrophy by limiting the accumulation of membrane lesions. By contrast, eccentric strain induced by long-term running in a wheel worsened the dystrophic process. Myofiber damage induced by eccentric strain increased with age, reflecting the accumulation of non-necrotic membrane lesions up to a critical threshold. This phenomenon was modulated by daily spontaneous activity. Transposed to humans, our results may suggest that the past activity profile shapes the clinical phenotype of the myopathy and that patients with dysferlinopathy should likely benefit from concentric exercise-based physiotherapy.

Physiotherapy, based on the Bobath concept, may influence the gait pattern in persons with limb-girdle muscle dystrophy: a multiple case series study.

BACKGROUND AND PURPOSE: There are few studies on possible effects of physiotherapy for adults with muscular dystrophy. The aim of this study was to examine if treatment based on the Bobath concept may influence specific gait parameters in some of these patients. METHODS: A single-subject experimental design with A-B-A-A phases was used, and four patients, three with limb-girdle muscular dystrophy (LGMD) and one with fascioscapulohumeral muscular dystrophy (FSHD), were included. The patients had 1 hour of individually tailored physiotherapy at each working day for a period of 3 weeks. Step length, step width and gait velocity were measured during the A-B-A-A phases by use of an electronic walkway. Walking distance and endurance were measured by use of the '6 minute walk test'. RESULTS: . The three LGMD patients, who initially walked with a wide base of support, had a narrower, velocity-adjusted step width after treatment, accompanied with the same or even longer step length. These changes lasted throughout follow-up. Moreover, two of the patients were able to walk a longer distance within 6 minutes after the treatment period. The fourth patient (with FSHD) had a normal step width at baseline, which did not change during the study. CONCLUSIONS: The results indicate that physiotherapy treatment based on the Bobath concept may influence the gait pattern in patients with LGMD. However, in order to evaluate the effectiveness of physiotherapy to patients with muscular dystrophies, we call for larger studies and controlled trials.

Estimate of daily calorie needs for a neuromuscular disease patient receiving noninvasive ventilation.

The purpose of this report is to estimate the daily caloric intake needed by a person with substantial muscle wasting due to neuromuscular disease and who also uses a ventilator for substantial amounts of time. Although this study was done for a particular individual, its methodology is generalized to any nonambulatory neuromuscular disease patient. The author, the person chosen for this analysis, is a male, limb girdle muscular dystrophy patient, who uses noninvasive ventilation approximately 20 hrs/day. An experimental technique gave a range of energy requirements for the study individual of total energy expenditure (TEE) of 788 kcal/day < or = TEE (experimental) < or = 876 kcal/day, or an average of 832 kcal/day, and the model developed here gave a range of 801 kcal/day < or = TEE (model) < or = 871 kcal/day, or an average of 836 kcal/day. This article examines and then generalizes these results to develop a simple equation that clinicians and nutritionists may use to estimate daily energy needs for ventilated neuromuscular disease patients. Because severe muscle wasting--which we define for the purposes of this article to be <30% of normal--is assumed, this analysis represents a near minimum daily energy need.