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Myopathies are a heterogeneous group of diseases characterized by progressive muscle weakness and degeneration. While muscle diseases have a major impact on patients' quality of life, a growing number of pre-clinical and clinical studies suggest that adapted physical exercise is beneficial in alleviating some symptoms and improving some functional parameters. This brief review of the literature discusses the current state of research about the effects of exercise in humans with various muscle diseases, exploring its impact on molecular mechanisms, muscle strength, endurance, function and the quality of life., (© 2024 médecine/sciences – Inserm.)

Objectives: To investigate the responsiveness of the motor function measure (MFM) and determine the minimal clinically important difference (MCID) in individuals with 2 common types of congenital muscular dystrophy (CMD)., Design: Observational, prospective, single center, cohort study., Setting: National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH)., Participants: Individuals (N=44) with collagen VI-related dystrophies (COL6-RD, n=23) and 21 individuals laminin alpha2-related muscular dystrophy (LAMA2-RD, n=21) enrolled in a 4-year longitudinal natural history study., Interventions: Not applicable., Main Outcome Measures: Responsiveness of the MFM-32 and the Rasch-scaled MFM-25 and the MCID of the MFM-32 determined from a patient-reported anchor with 2 different methods, within-patient and between-patient., Results: The original MFM-32 and Rasch-scaled MFM-25 performed similarly overall in both the COL6-RD and LAMA2-RD populations, with all subscores (D1, standing and transfers; D2, axial and proximal; D3, distal) showing a significant decrease over time, except MFM D1 and D3 for LAMA2-RD. The MFM D1 subscore was the most sensitive to change for ambulant individuals, whereas the MFM D2 subscore was the most sensitive to change for nonambulant individuals. The MCID for the MFM-32 total score was calculated as 2.5 and 3.9 percentage points according to 2 different methods., Conclusions: The MFM showed strong responsiveness in individuals with LAMA2-RD and COL6-RD. Because a floor effect was identified more prominently with the Rasch-Scaled MFM-25, the use of the original MFM-32 as a quantitative variable with the assumption of scale linearity appears to be a good compromise. When designing clinical trials in congenital muscular dystrophies, the use of MCID for MFM should be considered to determine if a given intervention effects show not only a statistically significant change but also a clinically meaningful change., (Copyright © 2020 American Congress of Rehabilitation Medicine. All rights reserved.)

Background: Upper limb assistive devices can compensate for muscular weakness and empower the user in the execution of daily activities. Multiple devices have been recently proposed but there is still a lack in the scientific comparison of their efficacy., Methods: We conducted a cross-over multi-centric randomized controlled trial to assess the functional improvement at the upper limb level of two arms supports on 36 patients with muscular dystrophy. Participants tested a passive device (i.e., Wrex by Jaeco) and a semi-active solution for gravity compensation (i.e., Armon Ayura). We evaluated devices' effectiveness with an externally-assessed scale (i.e., Performance of the Upper Limb-PUL-module), a self-perceived scale (i.e., Abilhand questionnaire), and a usability scale (i.e., System Usability Scale). Friedman's test was used to assess significant functional gain for PUL module and Abilhand questionnaire. Moreover, PUL changes were compared by means of the Friedman's test., Results: Most of the patients improved upper limb function with the use of arm supports (median PUL scores increase of 1-3 points). However, the effectiveness of each device was related to the level of residual ability of the end-user. Slightly impaired patients maintained the same independence without and with assistive devices, even if they reported reduced muscular fatigue for both devices. Moderately impaired patients enhanced their arm functionality with both devices, and they obtained higher improvements with the semi-active one (median PUL scores increase of 9 points). Finally, severely impaired subjects benefited only from the semi-active device (median PUL scores increase of 12 points). Inadequate strength was recognized as a barrier to passive devices. The usability, measured by the System Usability Scale, was evaluated by end-users "good" (70/100 points) for the passive, and "excellent" (80/100 points) for the semi-active device., Conclusions: This study demonstrated that assistive devices can improve the quality of life of people suffering from muscular dystrophy. The use of passive devices, despite being low cost and easy to use, shows limitations in the efficacy of the assistance to daily tasks, limiting the assistance to a predefined horizontal plane. The addition of one active degree of freedom improves efficacy and usability especially for medium to severe patients. Further investigations are needed to increase the evidence on the effect of arm supports on quality of life and diseases' progression in subjects with degenerative disorders. Trial registration clinicaltrials.gov, NCT03127241, Registered 25th April 2017. The clinical trial was also registered as a post-market study at the Italian Ministry of Health.

Background: Neuromuscular diseases are characterized by the compromise of respiratory muscles, thoracic ventilation, muscle strength and coughing capacity. Patients have low quality of life and increased morbidity and mortality mostly due to respiratory impairment., Objective: To assess the benefits of adding inspiratory muscle training to neuromuscular patients' treatment and their compliance to the approach., Methods: We conducted a single-center prospective study with neuromuscular patients with decreased maximal inspiratory pressure. We developed an inspiratory muscle training protocol with three-month duration and once-daily training. The protocol had a progressive intensity that was individually tailored based on patients' baseline characteristics and tolerance. We used Powerbreathe Medic Classic devices to perform the training., Results: There were 21 patients who met the inclusion criteria and were enrolled in the study. Muscular dystrophy (n= 12, 57.3%) and amyotrophic lateral sclerosis (n= 4, 19%) were the most common diseases. After three months of training, patients increased their maximal inspiratory muscle pressure (p= 0.002) and peak cough flow (p= 0.011). Compliance to the protocol was 99 ± 5.5%., Conclusions: This protocol showed significant improvements on pulmonary muscles function and might be considered as an adjunct treatment to neuromuscular treatment. However, these positive results require larger further studies to validate the clinical benefits long-term.

The aim of this article is to offer insight into the different meanings of death that pierce the lives of people with disabilities and to discuss how those meanings are formed through a close connection with their bodies. To do that, I take an anthropological approach to trace the life paths of two individuals from a southern Latin American metropolis, exploring their embodied experiences of disability. Based on their accounts, I look at how their bodies are affected by specific conditions of stigma, dispossession, and social death, but also how, as "inappropriate/d" bodies, they rise above the logic of difference and move from a state of "absence" to a state of "presence" in the social world.

Background: Strength training or aerobic exercise programmes, or both, might optimise muscle and cardiorespiratory function and prevent additional disuse atrophy and deconditioning in people with a muscle disease. This is an update of a review first published in 2004 and last updated in 2013. We undertook an update to incorporate new evidence in this active area of research., Objectives: To assess the effects (benefits and harms) of strength training and aerobic exercise training in people with a muscle disease., Search Methods: We searched Cochrane Neuromuscular's Specialised Register, CENTRAL, MEDLINE, Embase, and CINAHL in November 2018 and clinical trials registries in December 2018., Selection Criteria: Randomised controlled trials (RCTs), quasi-RCTs or cross-over RCTs comparing strength or aerobic exercise training, or both lasting at least six weeks, to no training in people with a well-described muscle disease diagnosis., Data Collection and Analysis: We used standard methodological procedures expected by Cochrane., Main Results: We included 14 trials of aerobic exercise, strength training, or both, with an exercise duration of eight to 52 weeks, which included 428 participants with facioscapulohumeral muscular dystrophy (FSHD), dermatomyositis, polymyositis, mitochondrial myopathy, Duchenne muscular dystrophy (DMD), or myotonic dystrophy. Risk of bias was variable, as blinding of participants was not possible, some trials did not blind outcome assessors, and some did not use an intention-to-treat analysis. Strength training compared to no training (3 trials) For participants with FSHD (35 participants), there was low-certainty evidence of little or no effect on dynamic strength of elbow flexors (MD 1.2 kgF, 95% CI -0.2 to 2.6), on isometric strength of elbow flexors (MD 0.5 kgF, 95% CI -0.7 to 1.8), and ankle dorsiflexors (MD 0.4 kgF, 95% CI -2.4 to 3.2), and on dynamic strength of ankle dorsiflexors (MD -0.4 kgF, 95% CI -2.3 to 1.4). For participants with myotonic dystrophy type 1 (35 participants), there was very low-certainty evidence of a slight improvement in isometric wrist extensor strength (MD 8.0 N, 95% CI 0.7 to 15.3) and of little or no effect on hand grip force (MD 6.0 N, 95% CI -6.7 to 18.7), pinch grip force (MD 1.0 N, 95% CI -3.3 to 5.3) and isometric wrist flexor force (MD 7.0 N, 95% CI -3.4 to 17.4). Aerobic exercise training compared to no training (5 trials) For participants with DMD there was very low-certainty evidence regarding the number of leg revolutions (MD 14.0, 95% CI -89.0 to 117.0; 23 participants) or arm revolutions (MD 34.8, 95% CI -68.2 to 137.8; 23 participants), during an assisted six-minute cycle test, and very low-certainty evidence regarding muscle strength (MD 1.7, 95% CI -1.9 to 5.3; 15 participants). For participants with FSHD, there was low-certainty evidence of improvement in aerobic capacity (MD 1.1 L/min, 95% CI 0.4 to 1.8, 38 participants) and of little or no effect on knee extension strength (MD 0.1 kg, 95% CI -0.7 to 0.9, 52 participants). For participants with dermatomyositis and polymyositis (14 participants), there was very low-certainty evidence regarding aerobic capacity (MD 14.6, 95% CI -1.0 to 30.2). Combined aerobic exercise and strength training compared to no training (6 trials) For participants with juvenile dermatomyositis (26 participants) there was low-certainty evidence of an improvement in knee extensor strength on the right (MD 36.0 N, 95% CI 25.0 to 47.1) and left (MD 17 N 95% CI 0.5 to 33.5), but low-certainty evidence of little or no effect on maximum force of hip flexors on the right (MD -9.0 N, 95% CI -22.4 to 4.4) or left (MD 6.0 N, 95% CI -6.6 to 18.6). This trial also provided low-certainty evidence of a slight decrease of aerobic capacity (MD -1.2 min, 95% CI -1.6 to 0.9). For participants with dermatomyositis and polymyositis (21 participants), we found very low-certainty evidence for slight increases in muscle strength as measured by dynamic strength of knee extensors on the right (MD 2.5 kg, 95% CI 1.8 to 3.3) and on the left (MD 2.7 kg, 95% CI 2.0 to 3.4) and no clear effect in isometric muscle strength of eight different muscles (MD 1.0, 95% CI -1.1 to 3.1). There was very low-certainty evidence that there may be an increase in aerobic capacity, as measured with time to exhaustion in an incremental cycle test (17.5 min, 95% CI 8.0 to 27.0) and power performed at VO 2 max (maximal oxygen uptake) (18 W, 95% CI 15.0 to 21.0). For participants with mitochondrial myopathy (18 participants), we found very low-certainty evidence regarding shoulder muscle (MD -5.0 kg, 95% CI -14.7 to 4.7), pectoralis major muscle (MD 6.4 kg, 95% CI -2.9 to 15.7), and anterior arm muscle strength (MD 7.3 kg, 95% CI -2.9 to 17.5). We found very low-certainty evidence regarding aerobic capacity, as measured with mean time cycled (MD 23.7 min, 95% CI 2.6 to 44.8) and mean distance cycled until exhaustion (MD 9.7 km, 95% CI 1.5 to 17.9). One trial in myotonic dystrophy type 1 (35 participants) did not provide data on muscle strength or aerobic capacity following combined training. In this trial, muscle strength deteriorated in one person and one person had worse daytime sleepiness (very low-certainty evidence). For participants with FSHD (16 participants), we found very low-certainty evidence regarding muscle strength, aerobic capacity and VO 2 peak; the results were very imprecise. Most trials reported no adverse events other than muscle soreness or joint complaints (low- to very low-certainty evidence)., Authors' Conclusions: The evidence regarding strength training and aerobic exercise interventions remains uncertain. Evidence suggests that strength training alone may have little or no effect, and that aerobic exercise training alone may lead to a possible improvement in aerobic capacity, but only for participants with FSHD. For combined aerobic exercise and strength training, there may be slight increases in muscle strength and aerobic capacity for people with dermatomyositis and polymyositis, and a slight decrease in aerobic capacity and increase in muscle strength for people with juvenile dermatomyositis. More research with robust methodology and greater numbers of participants is still required., (Copyright © 2019 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd.)

Background: Professional support in pediatric and rehabilitation care environments has been recommended as a means to build youth competence in life skills during their transition to adulthood. Life skills are the essential psychosocial competencies and interpersonal skills needed to manage one's life. Residential immersive life skills (RILS) programs offer youth with physical disabilities enriched learning environments to acquire these skills. This study explored trajectories of personal growth in life skills and positive psychological outcomes among youth participating in a RILS program and related caregiver perspectives., Method: Delivered by a multidisciplinary healthcare team, The Independence Program is an intensive summer program housed in a college residence that provides realistic experiences of living away from home for small groups of youth between 17 and 21 years of age who have congenital and/or acquired physical disabilities. Using a longitudinal case study and qualitative descriptive design, four youth and their parents/guardians participated in semi-structured interviews prior to, and then 1 month, and 3 to 4 months after the program. A conventional content analysis yielded chronological narratives for each youth and caregiver dyad of their experiences, perceptions and outcomes over time. These narratives were further summarized using a 'line of development' perspective to describe individual developmental trajectories of personal growth., Results: All four of the youth returned from the program with positive reports about the new life skills acquired and new behaviours they engaged in. These positive reports generally continued post-program, albeit with differing trajectories unique to each youth and varying levels of congruence with their caregivers' readiness to support, accommodate and facilitate these changes. Caregivers differed in their capacity to shift in their parenting role to support consolidation of youth life skill competencies following program participation., Conclusions: RILS programs can be transformative. Varied youth trajectories identified significant personal growth through enhanced self-determination, self-efficacy and self-advocacy. Congruence in youth and caregiver perceptions of post-program changes was an important transactional factor. Professional support addressing caregiver needs may be beneficial to facilitate developmentally appropriate shifts in parenting roles. This shift is central to a model of shared management whereby adolescents take on greater responsibility for their own care and life choices.

Introduction: Bethlem myopathy is caused by dysfunctional collagen VI assembly, leading to varying degrees of hyperlaxity, contractures and muscle weakness. Previous studies demonstrate that cardiovascular training is safe and beneficial in patients with myopathies. However, exercise exacerbates the dystrophic phenotype in collagen VI-knockout mice., Methods: Six men with Bethlem myopathy were included (4 training; 2 controls). After training, 2 patients detrained. Patients performed 10 weeks of home-based, moderate-intensity exercise monitored by a pulse-watch. The primary outcome was change in peak oxygen uptake (VO 2peak ). Secondary outcomes were performances in functional tests., Results: VO 2peak improved in the training group (16%, P = 0.017). Detraining led to regression of VO 2peak toward baseline values (-8%; P = 0.03). No change was seen in the control group (-7%; P = 0.47). Performance in functional tests did not change significantly. Creatine kinase values were stable during the study., Conclusions: Moderate-intensity exercise seems to safely improve oxidative function in patients with Bethlem myopathy. Muscle Nerve 60: 183-188, 2019., (© 2019 Wiley Periodicals, Inc.)

Being able to perform a lost movement is an important experience towards increased independence and self-esteem, particularly for neuromuscular patients, who see their muscles weaken day after day. In this pilot study, preliminary results on the testing of a motorized upper-limb exoskeleton for muscular dystrophy patients are presented. The mechatronic system is a five Degrees of Freedom exoskeleton, which acts at shoulder, elbow, and wrist levels. It is designed to help severely impaired people to regain independence during daily-life activities. While wearing the exoskeleton, the user has the direct control of the system by actively piloting the position of end-effector by means of joystick or vocal control. The usability of the system and a quantitative assessment of arm functionality with and without the exoskeleton are evaluated on five muscular dystrophy patients. According to the objective functional benefit evaluation performed through the PUL scale, all participants strongly increased their range of motion and they were able to perform activities that were not possible without the exoskeleton, such as such as feeding, playing activities at the table, combing hair or using a keyboard. As for the evaluation of self-perceived functional benefit, four patients reflected the effective measured functional improvement. System usability has been evaluated to be good.

Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair users with a muscular dystrophy, likely to influence optimal prescription; reflecting features of muscular dystrophies, conditions secondary to disability, and comorbidities impacting on equipment provision., Methods: Cross-sectional retrospective case note review of recipients of electric powered indoor/outdoor wheelchairs provided by a specialist regional wheelchair service. Data on demography, diagnostic/clinical, and wheelchair prescription were systematically extracted., Results: Fifty-one men and 14 women, mean age 23.7 (range 10-67, s.d. 12.95) years, were studied. Forty had Duchenne muscular dystrophy, 22 had other forms of muscular dystrophy, and three were unclassified. Twenty-seven were aged under 19. Notable clinical features included problematic pain (10), cardiomyopathy (5), and ventilatory failure (4). Features related to disability were (kypho)scoliosis (20) and edema/cellulitis (3) whilst comorbidities included back pain (5). Comparison of younger with older users revealed younger users had more features of muscular dystrophy affecting electric powered chair provision (56%) whilst older users had more comorbidity (37%). Tilt-in-space was prescribed for 81% of users, specialized seating for 55% and complex controls for 16%., Conclusions: Muscular dystrophy users were prescribed electric powered indoor/outdoor chairs with many additional features reflecting the consequences of profound muscle weakness. In addition to facilitating independence and participation, electric powered indoor/outdoor chairs have major therapeutic benefits. Implications for rehabilitation Powered wheelchairs have therapeutic benefits in managing muscular dystrophy pain and weakness. The use of specialized seating needs careful consideration in supporting progressive muscle weakness and the management of scoliosis. Pain, discomfort, pressure risk, and muscle fatigue may be reduced by use of tilt-in-space.

The effect of oxidative stress on muscle damage inducted by physical exercise is widely debated. It is generally agreed that endurance and intense exercise can increase oxidative stress and generate changes in antioxidant power inducing muscle damage; however, regular and moderate exercise can be beneficial for the health improving the antioxidant defense mechanisms in the majority of cases. Growing evidences suggest that an increased oxidative/nitrosative stress is involved in the pathogenesis of several muscular dystrophies (MDs). Notably, physical training has been considered useful for patients with these disorders. This review will focus on the involvement of oxidative stress in MDs and on the possible effects of physical activities to decrease oxidative damage and improve motor functions in MDs patients.

This paper describes the psycho-social treatments received by 502 patients with MDs and their relatives, and the costs for care sustained by the families in the previous six month period. Data were collected by the MD-Care Schedule (MD-CS) and the Family Problems Questionnaire (FPQ). Psycho-educational interventions were provided to 72 patients (14.3%), and social/welfare support to 331 patients (65.9%). Social/welfare support was higher in patients with DMD or LGMD, in those showing more severe disability, and in patients who were in contact with centres located in Northern Italy. Psycho-educational interventions were received by 156 (31%) relatives, and social/welfare support by 55 (10.9%) and mainly provided by Family/Patients Associations (83.6%). Relatives with higher educational levels, who spent more daily hours in the assistance of patients with DMD, and in contact with centres in Central Italy more frequently benefited from psycho-educational interventions. In the previous year, costs for care were sustained by 314 (63.9%) relatives. Financial difficulties related to patient's condition, were higher in families of patients who needed more intensive rehabilitation and daily hours of caregiving, and in families who lived further away from the reference's centre. These results showed that psycho-social aspects of MDs care are only partially met in Italy, and that ad hoc supportive interventions for these patients and their families should be potentiated.

This paper describes the pharmacological therapies and rehabilitative interventions received by 502 patients with Muscular Dystrophies, evaluated in relation to patient's socio-demographic and clinical variables, and geographical areas. Data were collected by the MD-Socio-Demographic and Clinical Schedule (MD-SC-CS) and by the Family Problems Questionnaire (FPQ). The most part of the enrolled patients were in drug treatment. The number of the medications increased in relation to patient's age, disability degree and duration of illness and was higher among patients with Duchenne Muscular Dystrophy (DMD) compared with Becker (BMD) or Limb-Girdle Muscular Dystrophies (LGMD). Steroids (deflazacort or prednisone) were the drug most frequently used, followed by cardiologic and bone metabolism drugs. In general, patients using steroids were younger and had a shorter duration of illness; patients using cardiac drugs and dietary supplements were older and had a longer duration of illness. Rehabilitative interventions were provided to about 70% (351/502) of patients, mainly DMD. Of these, physiotherapy was the more frequent treatment (96.6%) and was prevalently performed in rehabilitative centres (about 70% of patients) and at home in only 30%. Hydrokinetic-therapy was practiced by 6.8% of patients. Respiratory rehabilitation was provided to 47.0% of patients (165/351) and assisted mechanical ventilaventilation to 13.1% (46). The amount of rehabilitative interventions increased in relation to the patient's age, level of disability and duration of illness. Compared to Central and Northern Italy, in Southern Italy there was a higher attention to cardiological impairment as shown by a higher number of patients receiving heart drugs. No statistically significant differences concerning the possibility to have access to rehabilitative interventions were noted among the three geographical areas. However, patient living in Southern Italy tend to receive rehabilitation more often at home.

Long-term non-invasive ventilation (NIV) was introduced in the 1980s, initially mainly for patients with poliomyelitis, muscular dystrophy (MD) or scoliosis. The obesity-hypoventilation syndrome has since become the commonest reason for referral to most centres providing home-NIV. Patients with MD are numerically a much smaller part of the workload, but as their disease progresses the need for ventilatory support changes and they require regular comprehensive assessment of their condition. We have examined the trend in MD use of home-NIV in our unit over the last 25 years. The number of new referrals appears to be stabilizing at around 20-25 over a 5-year period, equivalent to approximately 0.5 per 100,000 of population per year. The mean age at commencement of home-NIV is now 37.5 years, with 5-year survival rates of 70-75%. Ten-year survival rates are just over 40%. The distance of usual place of residence from our unit is fairly stable, currently at a mean of 27 km. Excellent survival rates mean that patients with MD, while numerically small, are likely to remain an important part of the workload of centres providing home-NIV. Our data should prove useful in the planning of future services for this group of patients.

Quality of life and well-being are frequently restricted in adults with neuromuscular disorders. As such, identification of appropriate interventions is imperative. The objective of this paper was to systematically review and critically appraise quantitative studies (RCTs, controlled trials and cohort studies) of psychosocial interventions designed to improve quality of life and well-being in adults with neuromuscular disorders. A systematic review of the published and unpublished literature was conducted. Studies meeting inclusion criteria were appraised using a validated quality assessment tool and results presented in a narrative synthesis. Out of 3,136 studies identified, ten studies met criteria for inclusion within the review. Included studies comprised a range of interventions including: cognitive behavioural therapy, dignity therapy, hypnosis, expressive disclosure, gratitude lists, group psychoeducation and psychologically informed rehabilitation. Five of the interventions were for patients with Amyotrophic Lateral Sclerosis (ALS). The remainder were for patients with post-polio syndrome, muscular dystrophies and mixed disorders, such as Charcot-Marie-Tooth disease, myasthenia gravis and myotonic dystrophy. Across varied interventions and neuromuscular disorders, seven studies reported a short-term beneficial effect of intervention on quality of life and well-being. Whilst such findings are encouraging, widespread issues with the methodological quality of these studies significantly compromised the results. There is no strong evidence that psychosocial interventions improve quality of life and well-being in adults with neuromuscular disorders, due to a paucity of high quality research in this field. Multi-site, randomised controlled trials with active controls, standardised outcome measurement and longer term follow-ups are urgently required.

Purpose: A pilot study was conducted to assess correspondence among measures of program characteristics (opportunities and intervention strategies) and youth experiences in a range of activity settings in a residential immersive life skills (RILS) program., Method: Opportunities and intervention strategies were assessed in 18 activity settings in the 21-day program. On two occasions each, four youth completed a measure of experiences and took part in onsite interviews., Results: There was good convergence between observed program opportunities and the use of socially-mediated, teaching/learning, and non-intrusive strategies. Youth experiences of social interaction, choice, and personal growth were further informed by interview information. There was substantial convergence between program characteristics and youth experiences, indicating the program was provided and experienced as intended., Conclusions: This pilot study indicated the fidelity of the program and the feasibility of using the measures in a future study. The preliminary findings suggest that RILS programs may provide a favorable environment for developmental experiences concerning social interaction, autonomy, and personal growth., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Objective: To investigate the prevalence of and risk factors for falling among individuals aging with multiple sclerosis (MS), muscular dystrophy (MD), postpolio syndrome (PPS), and spinal cord injury (SCI)., Design: Cross-sectional survey data from 2009 to 2010 were analyzed. We used forward logistic regression models to examine whether risk factors such as age, sex, mobility level, years since diagnosis, vision, balance, weakness, number of comorbid conditions, and physical activity could distinguish participants who reported falling from those who did not., Setting: Surveys were mailed to community-dwelling individuals who had 1 of 4 diagnoses (MS, MD, PPS, or SCI). The survey response rate was 91%., Participants: A convenience sample of community-dwelling individuals (N=1862; age, 18-94y) with MS, MD, PPS, or SCI in the United States., Interventions: Not applicable., Main Outcome Measure: Self-reported fall within the last 6 months., Results: Fall prevalence for people with MS (54%), MD (70%), PPS (55%), and SCI (40%). Across all 4 groups, fall rates peaked in middle age (45-64y) and among people with moderate mobility limitations. Seven risk factors differentiated participants who fell from those who did not: mobility level, imbalance, age, curvilinear age (age(2)), number of comorbid conditions, duration of diagnosis, and sex. The models differed across diagnostic groups., Conclusions: People aging with long-term physical disabilities experience unique challenges that affect their risk of falls. A better understanding of the frequency, severity, and risk factors of falls across diagnostic groups is needed to design and implement customized, effective fall prevention and management programs for these individuals., (Copyright © 2015 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.)

Objectives: To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. The Motor Function Measure (MFM) was examined for robustness, and changes are proposed for better adequacy., Design: Observational study based on data previously collected from several cohorts., Setting: Nineteen departments of physical medicine or neuromuscular consultation in France, Belgium, and the United States., Participants: Patients (N=289) aged 5 to 77 years., Interventions: None., Main Outcome Measures: A Rasch analysis examined the robustness of the MFM across the disease spectrum. The 3 domains of the scale (standing position and transfers, axial and proximal motor function, and distal motor function) were independently examined with a partial credit model., Results: The original 32-item MFM did not sufficiently fit the Rasch model expectations in either of its domains. Switching from a 4- to a 3-category response scale in 18 items restored response order in 16. Various additional checks suggested the removal of 7 items. The resulting Rasch-scaled Motor Function Measure with 25 items for congenital disorders of the muscle (Rs-MFM25(CDM)) demonstrated a good fit to the Rasch model. Domain 1 was well targeted to the whole severity spectrum-close mean locations for items and persons (0 vs 0.316)-whereas domains 2 and 3 were better targeted to severe cases. The reliability coefficients of the Rs-MFM25(CDM) suggested sufficient ability for each summed score to distinguish between patient groups (0.9, 0.8, and 0.7 for domains 1, 2, and 3, respectively). A sufficient agreement was found between results of the Rasch analysis and physical therapists' opinions., Conclusions: The Rs-MFM25(CDM) can be considered a clinically relevant linear scale in each of its 3 domains and may be soon reliably used for assessment in congenital disorders of the muscle., (Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.)

This article describes the development and evaluation of a software tool for the automatic configuration of mice and other pointing devices. The software is intended to accommodate the needs of people with physical impairments, with a goal of improved productivity and comfort during computer use. We successfully built prototype software that monitors user activity during performance of regular computer tasks and recommends appropriate Windows mouse settings to meet the user's specific needs. Twelve individuals with upper extremity impairments participated in an evaluation study. On average, the recommended settings significantly improved pointing performance for this subject group. The effect on trial time, entries, and error-free trials was significant at the 0.05 level. Trial time showed the strongest effect, improving by 29.3% with the settings recommended by our software. These results suggest that our software can successfully determine the appropriate mouse settings for an individual, yielding significant improvements in pointing performance.

This is a case series of rehabilitation failures that resulted in severe reactive depression from patients unnecessarily bereft of verbal communication by being left to breathe or be ventilated via tracheostomy tubes, with or without inflated cuffs, for months to years.

Recent studies in patients with muscular dystrophies suggest positive effects of aerobic and strength training. These studies focused training on using bicycle ergometers and conventional strength training, which precludes more severely affected patients from participating, because of their weakness. We investigated the functional effects of combined aerobic and strength training in patients with Becker and limb-girdle muscular dystrophies with knee muscle strength levels as low as 3% of normal strength. Eight patients performed 10 weeks of aerobic and strength training on an anti-gravity treadmill, which offered weight support up to 80% of their body weight. Six minute walking distance, dynamic postural balance, and plasma creatine kinase were assessed 10 weeks prior to training, immediately before training and after 10 weeks of training. Training elicited an improvement of walking distance by 8±2% and dynamic postural balance by 13±4%, indicating an improved physical function. Plasma creatine kinase remained unchanged. These results provide evidence that a combination of aerobic and strength training during anti-gravity has the potential to safely improve functional ability in severely affected patients with Becker and limb-girdle muscular dystrophies., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Objective: The purpose of the present study was to compare the unassisted cough peak flow (CPF) of patients affected by muscular dystrophy with CPF augmented by various techniques, including maximal depth glossopharyngeal breathing (GPB) combined with a subsequent self-induced thoracic or abdominal thrust., Design: All of the motorized wheelchair-dependent patients with muscular dystrophy who had previously mastered GPB were trained at home to increase their cough efficacy. This training involved maneuvering their wheelchair against the edge of a specially built table to autonomously produce a thoracic and/or abdominal thrust timed to the opening of the glottis for an independently assisted cough. Both unassisted and variously assisted CPFs were compared., Results: The 18 patients (17 men/1 woman) with muscular dystrophy, aged 21.1 ± 5.4 yrs, achieved variously assisted CPFs that were significantly higher than the spontaneous CPF (P < 0.001), with assisted CPFs but not unassisted CPFs that significantly exceeded a reported efficacious cough threshold value of 160 liters/min (P < 0.001). Moreover, increases in the CPFs by personal assistance including air stacking by manual resuscitator and thoracoabdominal thrust (326.4 ± 79.5 liters/min) or by GPB and thoracoabdominal thrust (326.4 ± 87.5 liters/min) were not significantly different (P = 0.07) from the CPFs independently attained by GPB plus independently maneuvering a wheelchair for a table thrust (310.3 ± 74.7 liters/min)., Conclusions: The independently assisted (GPB plus table thrust) CPF was comparable to the CPFs that required personal assistance for air stacking and abdominal thrusts. Therefore, for patients with muscular dystrophy, this physical medicine technique and cough-assisted techniques that require personal intervention are strongly recommended.

Muscular dystrophies (MDs) are characterized by progressive muscle wasting and weakness. Several studies have been conducted to investigate the influence of arm supports in an attempt to restore arm function. Lowering the load allows the user to employ the residual muscle force for movement as well as for posture stabilization. In this pilot study three conditions were investigated during a reaching task performed by three healthy subjects and three MD subjects: a control condition involving reaching; a similar movement with gravity compensation using braces to support the forearm; an identical reaching movement in simulated zero-gravity. In the control condition the highest values of shoulder moments were present, with a maximum of about 6 Nm for shoulder flexion and abduction. In the gravity compensation and zero gravity conditions the maximum shoulder moments were decreased by more than 70% and instead of increasing during reaching, they remained almost unvaried, fluctuating around an offset value less than 1 Nm. Similarly, the elbow moments in the control condition were the highest with a peak around 3.3 Nm for elbow flexion, while the moments were substantially reduced in the remaining two conditions, fluctuating around offset values between 0 to 0.5 Nm. In conclusion, gravity compensation by lower arm support is effective in healthy subjects and MD subjects and lowers the amount of shoulder and elbow moments by an amount comparable to a zero gravity environment. However the influence of gravity compensation still needs to be investigated on more people with MDs in order to quantify any beneficial effect on this population.

Due to neuromuscular disorders (e.g., Duchenne Muscular Dystrophy) people often loose muscle strength and become wheelchair bound. It is important to use muscles as much as possible. To allow this, and to increase independency of patients, an arm orthosis can be used to perform activities of daily life. The orthosis compensates for the gravity force of the arm, allowing people to perform movements with smaller muscle forces. For patients, the aesthetics of the orthosis is one of the critical issues. This paper presents the state-of-the-art in passive and wearable active arm orthoses, and investigates how to proceed towards a suitable structure for a wearable passive arm orthosis, that is able to balance the arm within its natural range of motion and is inconspicuous; in the ideal case it fits underneath the clothes. Existing devices were investigated with respect to the body interface, the volume, and the workspace. According to these evaluation metrics it is investigated to what extent the devices are wearable and inconspicuous. Furthermore, the balancing principle of the devices, the architecture, force transmission through the devices, and alignment with the body joints are investigated. It appears that there is only one wearable passive orthosis presented in literature. This orthosis can perform throughout the natural workspace of the arm, but is still too bulky to be inconspicuous. The other passive orthoses were conspicuous and mounted to the wheelchair. Except one, the wearable active orthoses were all conspicuous and heavy due to a large backpack to enclose the actuators. They also could not achieve the entire natural workspace of the human arm. A future design of an inconspicuous, wearable, passive arm orthoses should stay close to the body, be comfortable to wear, and supports pronation and supination.

Weakness resulting from spinal muscular atrophy causes severe limitations in functional mobility. The early introduction of power mobility has potential to enhance development and mitigate disability. These outcomes are achieved by simulating normal skill acquisition and by promoting motor learning, visuospatial system development, self-exploration, cognition, and social development. There are few reports on early power mobility in spinal muscular atrophy, and it is typically not prescribed until school age. The authors evaluated 6 children under age 2 years with neuromuscular disease (5 spinal muscular atrophy, 1 congenital muscular dystrophy) for power mobility. Parents recorded the practice hours necessary to achieve independence using the Power Mobility Skills Checklist. Four children achieved independence in all items on the checklist by 7.9 months (range: 73-458 days). Introduction of early power mobility is feasible in spinal muscular atrophy patients under age 2 years and should be introduced in late infancy when children typically acquire locomotor skills.

Objective: Chronic pain acceptance has been shown to be related to positive adjustment to chronic pain in patients presenting with pain as a primary problem. However, the role of pain acceptance in adjustment to chronic pain secondary to a neurological disorder that is often associated with physical disability has not been determined. The purpose of this study was to examine whether two domains of chronic pain acceptance--activity engagement and pain willingness--predict adjustment to pain, controlling for pain intensity and key demographic and clinical variables in individuals with muscular dystrophy (MD), multiple sclerosis (MS), post-polio syndrome (PPS), or spinal cord injury (SCI)., Method: Participants were 508 community-dwelling adults with a diagnosis of MD, MS, PPS, or SCI who also endorsed a chronic pain problem. Participants completed self-report measures of pain acceptance, quality of life, pain interference, pain intensity, depression, and social role satisfaction., Results: Hierarchical linear regressions indicated that activity engagement predicted lower pain interference and depression, and greater quality of life and social role satisfaction. Pain willingness predicted less pain interference and depression. Together, the two pain acceptance subscales accounted for more variance in outcomes than did self-reported pain intensity., Conclusions: Findings correspond with the broader pain acceptance literature, although activity engagement appears to be a more robust predictor of adjustment than does pain willingness. This research supports the need for future studies to determine the extent to which treatments that increase acceptance result in positive outcomes in persons with chronic pain secondary to neurological disorders.

Background/aim:   Engagement in peer-based social activities is a normal and important aspect of adolescence. Adolescent boys with muscular dystrophy typically lack opportunities for participation in peer-based recreation and socialization activities. 'MD Mafia' is a group which aims to reduce social isolation and offer social and recreational opportunities for adolescent boys with muscular dystrophy. This research is a qualitative exploration of the value of 'MD Mafia' and seeks to answer the question: "what does the experience of participating in 'MD Mafia', a group for adolescent boys with muscular dystrophy, mean to the boys and their parents?"., Methods:   This research sought the views of the boys who participate in MD Mafia and their parents. The sample included seven boys and four mothers. Data collection methods included creative group activities, specifically chosen to match the participants' age, interests and skills, and online data collection. The theoretical perspective of symbolic interactionism guided the theoretical analysis of the data., Results:   Analysis of the data provided a description of the meaning and value of 'MD Mafia' from the participants' perspective. MD Mafia has a strong collective identity, which reflects ideals of masculinity and common interests. The group provides much valued opportunity for socialization in a safe and familiar environment, but parents also felt that MD Mafia could offer greater opportunities for skill development by increasing the challenge level of the activities and social environment. The theoretical analysis provides insight into the value of social interactions between participants in a group which has had positive implications for the boys as individuals and for MD Mafia as a group., Conclusions:   The research supports a group model of service delivery for boys with muscular dystrophy and has implications for the development of the group into the future., (© 2011 Blackwell Publishing Ltd.)

Objective: A shortage of traditional medical fieldwork placements has been reported in the United States. Alternative settings are being sought to meet the Accreditation Standards for Level I fieldwork. This study was designed to examine and report the outcomes of an alternative pediatric camp setting, using a group model of supervision to fulfill the requirements for Level I fieldwork., Participants: Thirty-seven students from two Pennsylvania OT schools., Methods: Two cohorts of students were studied over a two year period using multiple methods of retrospective review and data collection., Results: Students supervised in a group model experienced positive outcomes, including opportunities to deliver client centered care, and understanding the role of caregiving for children with disabilities., Conclusion: The use of a collaborative model of fieldwork education at a camp setting has resulted in a viable approach for the successful attainment of Level I fieldwork objectives for multiple students under a single supervisor.

The muscular dystrophies (MD) are a heterogeneous group of inherited disorders characterized by findings on muscle biopsy. In general, they feature progressive muscle wasting and weakness. In addition to the musculoskeletal system, direct and indirect effects can be seen in a variety of organ systems. These issues create challenges in patients with MD for ambulation and mobility, self-care, pain, fatigue, and community involvement. Because of its progressive nature and wide variety of pathophysiological mechanisms, patients with MD require individualized rehabilitation care. This chapter reviews specific rehabilitation needs and treatment of patients with MD., (Copyright © 2013 Elsevier B.V. All rights reserved.)

This article reviews the current knowledge regarding the benefits and contraindications of exercise on individuals with neuromuscular diseases (NMDs). Specific exercise prescriptions for individuals with NMDs do not exist because the evidence base is limited. Understanding the effect of exercise on individuals with NMDs requires the implementation of a series of multicenter, randomized controlled trials that are sufficiently powered and use reliable and valid outcome measures to assess the effect of exercise interventions-a major effort for each NMD. In addition to traditional measures of exercise efficacy, outcome variables should include measures of functional status and health-related quality of life., (Copyright © 2012. Published by Elsevier Inc.)

Purpose: Although the content of thoughts has received a considerable amount of attention in pain research, the importance of thought processes (metacognitions) has received less attention., Method: One hundred twenty-nine individuals with muscular dystrophy and chronic pain completed measures assessing metacognitions and frequency of both catastrophizing and pain control beliefs., Results: Greater use of reappraisal and distraction metacognitions were associated with more perceived control over pain, whereas greater use of worry and punishment metacognitions were associated with more catastrophizing., Conclusions/implications: The current findings indicate that metacognitions are associated with both pain control beliefs and catastrophizing and therefore may play an important role in the development or maintenance of pain-related cognitive content thought to influence patient functioning. Research is needed to determine whether treatments that encourage changes in both metacognitions and cognitive content are more effective than treatments that focus on cognitive content alone.

Background: Nutrition related problems are increasing worldwide but they have scarcely been evaluated in people with neuromotor disabilities, particularly in developing countries. In this study our aim was to describe the weight-based nutritional diagnoses of children and adolescents with neuromotor disabilities who attended a private rehabilitation center in Mexico City., Methods: Data from the first visit's clinical records of 410 patients who attended the Nutrition department at the Teleton Center for Children Rehabilitation, between 1999 and 2008, were analyzed. Sex, age, weight and height, length or segmental length data were collected and used to obtain the nutritional diagnosis based on international growth charts, as well as disability-specific charts. Weight for height was considered the main indicator., Results: Cerebral palsy was the most frequent diagnosis, followed by spina bifida, muscular dystrophy, and Down's syndrome. Children with cerebral palsy showed a higher risk of presenting low weight/undernutrition (LW/UN) than children with other disabilities, which was three times higher in females. In contrast, children with spina bifida, particularly males, were more likely to be overweight/obese (OW/OB), especially after the age of 6 and even more after 11. Patients with muscular dystrophy showed a significantly lower risk of LW/UN than patients with other disabilities. In patients with Down's syndrome neither LW/UN nor OW/OB were different between age and sex., Conclusions: This is the first study that provides evidence of the nutritional situation of children and adolescents with neuromotor disabilities in Mexico, based on their weight status. Low weight and obesity affect a large number of these patients due to their disability, age and sex. Early nutritional diagnosis must be considered an essential component in the treatment of these patients to prevent obesity and malnutrition, and improve their quality of life.

This paper introduces a 4-DOFs exoskeletal meal assistance system (EMAS II) for progressive muscle dystrophy patient. It is generally better for the patient to use his/her hands by himself in daily life because active works maintain level of residual functions, health and initiative of him/her. The EMAS II that has a new joystick-type user interface device and three-DOFs on a shoulder part is enhanced for an easier operation and more comfortable support on eating, as the succeeding model of the previous system that has two-DOFs on a shoulder. In order to control the 4-DOFs system by the simple user interface device, the EMAS II simulates upper limb motion patterns of a healthy person. The motion patterns are modeled by extracting correlations between the height of a user's wrist joint and that of the user's elbow joint at the table. Moreover, the EMAS II automatically brings user's hand up to his/her mouth or back to a table when he/she pushes a preset switch on the interface device. Therefore a user has only to control a position of his/her wrist to pick or scoop foods and then flip the switch to start automatic mode, while a height of the elbow joint is automatically controlled by the EMAS II itself. The results of experiments, where a healthy subject regarded as a muscle dystrophy patient eats a meal with EMAS II, show that the subject finished her meal in a natural way in 18 minutes 40 seconds which was within a recommended time of 30 minutes., (© 2011 IEEE)

Computers, telephones, and assistive technology hold promise for increasing the independence, productivity, and participation of individuals with disabilities in academic, employment, recreation, and other activities. However, to reach this goal, technology must be accessible to, available to, and usable by everyone. The authors of this article share computer and telephone access challenges faced by individuals with neurological and other impairments, assistive technology solutions, issues that impact product adoption and use, needs for new technologies, and recommendations for practitioners and researchers. They highlight the stories of three individuals with neurological/mobility impairments, the technology they have found useful to them, and their recommendations for future product development.

Purpose: This pilot study assesses the suitability of three electronic instruments for the potential to objectively and consistently measure the effectiveness of adaptive seating for children with neuromotor disorders such as cerebral palsy and muscular dystrophy., Method: A MiniMicroactigraph, an XSens accelerometer and an Xsensor pressure mapping system were assessed for their ability to measure change in five participants' stability, movement and posture when seating in a flat CAPS II chair and a contoured CAPS II chair., Results: The accelerometer and pressure mapping system showed a difference in amount of movement and body/seat interface between two contrasting seated surfaces on all children, demonstrating potential for use in future research. The results of the actigraph were inconclusive, but did highlight the importance of instrument placement for future studies that utilise this technology., Conclusion: The three instruments have potential suitability for use in future, more comprehensive studies of adaptive seating. It is recommended that future studies explore the additional features of these instruments for their potential to provide objective data regarding the effects of adaptive seating on children's postural alignment and support, pressure management, stability, functional ability and comfort., (© 2011 Informa UK, Ltd.)

Aging with disabilities, such as multiple sclerosis, spinal cord injury, muscular dystrophy, and postpolio syndrome, can lead to barriers to participation, including employment barriers. Many individuals develop strategies for overcoming these barriers that may become less successful as they experience more secondary conditions concomitant with the aging process. Rehabilitation professionals can help to overcome barriers to workplace participation and should work with clients to enhance employment outcomes.

Unlabelled: Laffont I, Biard N, Chalubert G, Delahoche L, Marhic B, Boyer FC, Leroux C. Evaluation of a graphic interface to control a robotic grasping arm: a multicenter study., Objective: Grasping robots are still difficult to use for persons with disabilities because of inadequate human-machine interfaces (HMIs). Our purpose was to evaluate the efficacy of a graphic interface enhanced by a panoramic camera to detect out-of-view objects and control a commercialized robotic grasping arm., Design: Multicenter, open-label trial., Setting: Four French departments of physical and rehabilitation medicine., Participants: Control subjects (N=24; mean age, 33y) and 20 severely impaired patients (mean age, 44y; 5 with muscular dystrophies, 13 with traumatic tetraplegia, and 2 others) completed the study. None of these patients was able to grasp a 50-cL bottle without the robot., Interventions: Participants were asked to grasp 6 objects scattered around their wheelchair using the robotic arm. They were able to select the desired object through the graphic interface available on their computer screen., Main Outcome Measures: Global success rate, time needed to select the object on the screen of the computer, number of clicks on the HMI, and satisfaction among users., Results: We found a significantly lower success rate in patients (81.1% vs 88.7%; chi(2)P=.017). The duration of the task was significantly higher in patients (71.6s vs 39.1s; P<.001). We set a cut-off for the maximum duration at 79 seconds, representing twice the amount of time needed by the control subjects to complete the task. In these conditions, the success rate for the impaired participants was 65% versus 85.4% for control subjects. The mean number of clicks necessary to select the object with the HMI was very close in both groups: patients used (mean +/- SD) 7.99+/-6.07 clicks, whereas controls used 7.04+/-2.87 clicks. Considering the severity of patients' impairment, all these differences were considered tiny. Furthermore, a high satisfaction rate was reported for this population concerning the use of the graphic interface., Conclusions: The graphic interface is of interest in controlling robotic arms for disabled people, with numerous potential applications in daily life.

Purpose: To identify areas of difficulty encountered by a regional wheelchair service in providing Electric Powered Indoor/outdoor wheelchairs (EPIOCs) to those with muscular dystrophy (MD) in the early years of their provision--particularly posture, pain and deformity., Method: Wheelchair service records of all users between April 1997 and March 2000 were reviewed retrospectively and issues relating to weakness, pain/discomfort, deformities, other medical issues, weight change, function, posture and driving were documented on a purpose-designed proforma. Adjustments and modifications were documented over the 2-year period following chair delivery., Results: Of 325 EPIOC users on the departmental database, 29 had MD (15 Duchenne's), whose users charts were reviewed. Almost 80% of users needed clinical review within 2 years, mostly due to a scoliosis. Other problems were postural (66%), medical (48%), pain (31%), functional (24%) and weight change (14%). The commonest prescriptions were for specialised seating (24%), lateral supports, headrests and footrests (21% each)., Conclusions: The rate of disease progression was not planned for by the service. Most clients were seen in response to deterioration, rather than anticipating it. Planned reviews within 1 year appear essential for teenagers with MD with the dual issues of rapid maturation and progressive disease.

Human robot interaction is a new and rapidly growing field and its application in the realm of rehabilitation and physical care is a major focus area of research worldwide. This paper discusses the development and implementation of a wireless motion capture system for the human arm which can be used for physical therapy or real-time control of a robotic arm, among many other potential applications. The system is comprised of a mechanical brace with rotary potentiometers inserted at the different joints to capture position data. It also contains surface electrodes which acquire electromyographic signals through the CleveMed BioRadio device. The brace interfaces with a software subsystem which displays real time data signals. The software includes a 3D arm model which imitates the actual movement of a subject's arm under testing. This project began as part of the Rochester Institute of Technology's Undergraduate Multidisciplinary Senior Design curriculum and has been integrated into the overall research objectives of the Biomechatronic Learning Laboratory.

Purpose: This study examined important factors affecting activities and participation of persons with mobility impairments., Method: This mixed methods study employed grounded theory approaches and data conversion to quantify impact of environmental and personal factors on standard measures of activities and participation. Semi-structured interviews of participants with mobility impairments were conducted to identify key factors and the magnitude of their influence on activities of daily living and participation. Participants were individually scored on the Barthel index (BI) and the Participation scale (P-scale); BI scores that would have been obtained without associated factors were estimated. Average cumulative impact of factors on BI and P-scale scores were estimated to identify factors with the greatest numeric impact., Results: Twenty-four participants identified 258 factors that impacted activities. For the BI, adaptive equipment, gait aids, wheelchairs, scooters and home modifications were most influential. For the P-scale, personality, community and home accessibility, level of impairment, mobility aids and transportation were among the most influential., Conclusion: Convergent results through various methods suggest that reporting of contextual factors that may affect scores on standardised measures of activities and participation may assist in interpretation, and identification of interventional needs at the individual or system levels.

The objective of this study was to determine the utility of a passive gravity-balanced arm orthosis, the Wilmington robotic exoskeleton (WREX), for patients with neuromuscular diseases. The WREX, a four-degrees-of-freedom functional orthosis, is energized by rubber bands to eliminate gravity and is attached to the wheelchair. The development and clinical testing of WREX is described in this report. Seventeen patients (14 boys and 3 girls) with muscular disabilities participated in the study. Ages ranged from 4 to 20 years. Criteria for inclusion included a weakened arm, use of a wheelchair, the ability to grasp and release objects, and the ability to provide feedback on device use. Testing consisted of administering the Jebsen test of hand function without WREX and then testing again after approximately two weeks of wearing the WREX orthosis. The timed results of each task within the test then were compared. Specific tasks related to vertical movement required less time to perform with the WREX. A large number of subjects were able to perform the Jebsen tasks with the WREX, where they were unable to perform the task without the WREX. Patients can benefit from WREX because it increases their performance in daily living activities and makes many tasks possible. The range-of-motion in the patients' arms increased considerably, while the time required to complete some of the Jebsen test tasks decreased. Most patients were very receptive to WREX, although a few were ambivalent.

Duchenne/Becker muscular dystrophy is a progressive muscle disease, which is caused by the abnormality of dystrophin. Spina bifida is characterized by paralysis of the feet, with most of the upper extremities not being affected. We report here on the first case of Becker muscular dystrophy coinciding with spina bifida. The muscle biopsy specimens of the patient showed dystrophic changes in upper extremities, but clearly less in lower extremities. The results show that the restriction of excessive exercise is important for dystrophin deficiency disease.

Objective: To assess if activities of daily living (ADL), coping and quality of life could be improved in adults with muscular dystrophy through a comprehensive rehabilitation programme., Design: Quasi-experimental, controlled clinical study comparing patients with similar age and disease aspects., Setting: Two different counties in Sweden, being either study or control setting., Subjects: The study group comprised 37 adults (21 women, 16 men; mean age 50 years), while the control group comprised 39 people (25 women, 14 men; mean age 46 years)., Interventions: Four rehabilitation sessions tailored to different medical, physical and psychosocial needs of the patients, comprising a total of 10 days over a period of 18 months., Main Measures: ADL, the Mental Adjustment to Cancer Scale measuring coping strategies, the Sickness Impact Profile measuring health-related quality of life, the Hospital Anxiety and Depression Scale, and the Psychosocial Well-being Questionnaire., Results: No significant differences were found between groups with regard to the outcome measures. There was increased dependence on others in ADL after 18 months in both groups, but it was more pronounced in the control group. Furthermore, a clear trend was observed in the data with regard to coping patterns, the control group using more coping strategies such as 'Helplessness/hopelessness' (P= 0.057), 'Anxious preoccupation' (P = 0.085) and 'Fatalistic' (P= 0.073) when being compared to the study group., Conclusions: No apparent effects on ADL were found from the rehabilitation programme, although there was a tendency of reduction of maladaptive coping patterns in the study group. This initial study may provide the rationale and basis for a randomized controlled trial.

Background: Strength training or aerobic exercise programmes might maximise muscle and cardiorespiratory function and prevent additional disuse atrophy in patients with muscle disease. However, over-exerting might cause more rapid disease progression., Objectives: To examine the efficacy and safety of strength training and aerobic exercise training in patients with muscle diseases., Search Strategy: We searched the Cochrane Neuromuscular Disease Group register (October 2002 and May 2004), the Cochrane Collaboration Rehabilitation and Related Therapies Field register (October 2002), MEDLINE (January 1966 to December 2002), EMBASE (January 1973 to October 2002), and CINAHL (January 1982 to August 2002) for randomised trials. We reviewed the bibliographies of trials identified and reviews covering the subject., Selection Criteria: Randomised or quasi-randomised controlled trials comparing strength training and/or aerobic exercise programmes lasting at least 10 weeks. Types of outcome measures: FOR STRENGTH TRAINING. Primary: static or dynamic muscle strength. Secondary: muscle strength (endurance or fatigue), functional assessments, quality of life, muscle membrane permeability, pain, and fatigue. FOR AEROBIC EXERCISE TRAINING. Primary: aerobic capacity expressed as work capacity. Secondary: aerobic capacity (oxygen consumption, parameters of cardiac or respiratory function), functional assessments, quality of life, muscle membrane permeability, pain, and fatigue., Data Collection and Analysis: Two reviewers independently assessed trial quality and extracted the data., Main Results: We identified two randomised trials fulfilling all inclusion criteria. The first trial compared the effect of strength training versus no training in 36 patients with myotonic dystrophy. The other trial compared strength training versus no training combined with albuterol or placebo in 65 patients with facioscapulohumeral muscular dystrophy. Methodological quality and training programmes were graded adequate. In the myotonic dystrophy trial there were no significant differences between training and non-training groups for the primary outcome measure. In the facioscapulohumeral muscular dystrophy trial static muscle strength did not show significant differences between training and non-training groups. Only a +1.2 kg difference (95% confidence interval 0.2 to 2.1) in dynamic strength of elbow flexors in favour of the training group, reached statistical significance. For both trials there were no significant differences between groups for most of the secondary outcome measures, including those covering adverse effects., Authors' Conclusions: In myotonic dystrophy and facioscapulohumeral muscular dystrophy moderate-intensity strength training appears not to do harm but there is insufficient evidence to establish that it offers benefit. Limitations in the design of studies in other muscle diseases prevent general conclusions in these disorders.