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The knowledge of adult life with Duchenne muscular dystrophy (DMD) is sparse. The purpose of this study was to review existing information and describe body functional, social participatory and quality of life profiles of the ordinary adult Danish DMD patient. Sixty-five study subjects aged 18-42 years were included in a cross-sectional survey based on data from a semi-structured questionnaire comprising 197 items. The ordinary adult DMD patient states his quality of life as excellent; he is worried neither about his disease nor about the future. His assessment of income, hours of personal assistance, housing, years spent in school and ability to participate in desired activities are positive. Despite heavy immobilization, he is still capable of functioning in a variety of activities that are associated with normal life. He lacks qualifying education and he is in painful need of a love life. The frequency of pains is surprisingly high; nearly 40% has pains daily. The nature, magnitude, consequence and possible cure of these reported pains must be scrutinized. Parents and professionals, paediatricians not the least, must anticipate in all measures taken that the DMD boy grows up to manhood and will need competences for adult social life in all respects. [ABSTRACT FROM AUTHOR]

The EK [Egen Klassifikation] scale was developed to assess overall functional ability in the non-ambulatory stage of Duchenne muscular dystrophy (DMD). The purpose of this study was to examine the reliability of the EK scale. Six subjects with DMD, selected as representative of the entire range of functional ability seen in the nonambulatory phase of the disease, were video recorded and assessed using the EK scale. The assessment required both interview and performance of functional activities. The video records were shown to 17 healthcare professionals comprising seven three physiotherapy students, four occupational therapists, two social workers and one physician. They viewed and assessed the video recordings. Seven of the professionals repeated the assessments after 6-8 weeks. Intra-class correlation coefficients determined for both inter- and intra-rater reliability were 0.98. The standard deviation of individual estimates of EK sum was 0.95 when physiotherapists, an assessment was repeated by different evaluators on the same subject and 0.78 when repeated by the same evaluator. Weighted kappa values for individual categories ranged from 0.67 to 0.94. The EK scale was found to be highly reliable when used by healthcare professionals assessing the subjects from videotapes. [ABSTRACT FROM AUTHOR]

We aimed at studying fracture risk in patients with Duchenne's muscular dystrophy (DMD), Becker's muscular dystrophy (BEMD), and spinal muscular atrophy type II and III (SMA II and III). A self-administered questionnaire was mailed to 293 patients with DMD, BEMD, SMA II or SMA III of which 229 returned the questionnaire. Each respondent was compared with an age- and gender-matched control subject. The mean age was 23.9 +/- 15.9 years for the patients and 23.3 +/- 16.5 years for the controls. There were significantly more fractures among patients than controls after the diagnosis was made (RR = 1.9), but not before. The patients had more fractures of the femurs, lower legs, and upper arms than the controls. Low energy fractures were more frequent in patients than controls (9% vs 0%). Many fractures in the femurs (40%), lower legs (35%), and feet and toes (44%) led to a permanent loss of function. Loss of ambulation was the major risk factor for fractures. In conclusion, fracture risk is increased in neuromuscular disease. [ABSTRACT FROM AUTHOR]

Duchenne muscular dystrophy (DMD) is a progressive, genetically determined neuromuscular disease that affects males and leads to severe physical disability in early teenage years. Over the last decades, patient-reported outcomes such as Health-Related Quality of Life (HRQoL) gained great interest in clinical research. However, little is known about factors affecting HRQoL in boys with DMD. Data from the multi-center CARE-NMD project of boys with DMD from six European countries collected between 2011 and 2012 were analyzed (8-17 years old; n = 321). HRQoL was measured using the KIDSCREEN-10 index, the Pediatric Quality of Life Inventory (PedsQL) and the Neuromuscular Module of the PedsQL (NMM). Linear regression models served to examine influences of socio-demographic, disease- and treatment-specific as well as participation- and environment-related factors on overall and disease-specific HRQoL. Proportions of explained variance varied across models using different outcomes (18-34%). Overall HRQoL according to the KIDSCREEN-10 index was associated with household income, the frequency of attending a clinic with specialized staff, the number of days spent outside home, and the attitude of the local community, but no significant association with age occurred. Overall HRQoL according to the generic PedsQL and disease-specific HRQoL were both positively associated with age and influenced by the country of residence, the disease stage, number of days spent outside home, and the attitude of the local community. Our results may be relevant for clinical practice and planning interventions for this population, but should be confirmed by future research. Further questions for future studies on boys with DMD are proposed.

Background: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines., Methods: A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries., Results: Survey respondents were 861 children and 201 adults. Data describe a European DMD population with mean age of 13.0 years (range 0.8-46.2) of whom 53% had lost ambulation (at 10.3 years of age, median). Corticosteroid medication raised the median age for ambulatory loss from 10.1 years in patients never medicated to 11.4 years in patients who received steroids (p < 0.0001). The majority of patients reported receiving care in line with guidelines, although we identified significant differences between countries and important shortcomings in prevention and treatment. Summarised, 35% of patients aged≥ nine years received no corticosteroid medication, 24% of all patients received no regular physiotherapy, echocardiograms were not performed regularly in 22% of patients, pulmonary function was not regularly assessed in 71% of non-ambulatory patients. Patients with regular follow-up by neuromuscular specialists were more likely to receive care according to guidelines, were better satisfied, and experienced shorter unplanned hospitalization periods.

Introduction: Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two neuromuscular diseases which evolve with a progressive loss of muscle strength and, therefore, the loss of functional capacity. The valuation measurement scales are used to understand better and to quantify this involution as well as making treatment to anticipate problems and improve the quality of life of people suffering from these diseases., Aim: To study the changes in the functional capacity of a group of patients with SMA and DMD, over a period of three years., Patients and Methods: Nineteen individuals of the Spanish population affected with SMA and DMD, which were assessed with the Egen Klassifikation scale twice, with a time interval of three years., Results: The results show a decrease in the functional capacity of these persons during this time period, with a significant difference in the total amount of the scale (p = 0.003). All scale items showed lower valuations after three years, reaching statistical significance during the assessment, containing the ability to move his hands and coughing., Conclusion: The functional capacity of patients with SMA and DMD decreases significantly within three years.

Introduction: The Egen Klassifikation 2 Scale (EK2), expansion of the EK scale, assesses the functional capacity of people with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) that are in wheelchair phase. This version is more specific for SMA than its EK predecessor., Aim: To examine the validity and reliability of the Spanish version of the scale as a tool for measuring the functional capacity in patients with DMD and SMA who are in wheelchairs., Patients and Methods: First, a translation-back-translation into Spanish of the English version of the EK2 was performed; later, we studied the reliability of the translated version. For this, 39 patients, aged between 4 and 60, who were evaluated by two observers, were recruited. To evaluate the intra-observer consistency, two assessments by the same observer were performed, and the inter-observer third assessment was performed by a second observer., Results: The obtained values based on the total score of the scale items (sum EK2) reflect excellent intra- and inter-observer reliability, 0.993 and 0.988 respectively. Also, for each of the items, reliability was excellent except for one item in which it was good., Conclusions: The Spanish version of the EK2 scale is a valid and reliable instrument for the Spanish population as a tool for measuring the functional capacity in patients with SMA and DMD who are in wheelchairs.

Purpose: The aim of this study was to evaluate whether the fatigue severity scale (FSS) is an appropriate instrument to assess fatigue in patients with spinal muscular atrophy type II (SMA II) and congenital myopathies (CM)., Methods: FSS and visual analog scale (VAS) were administered to 33 SMA II- and 72 CM patients. The psychometric properties of the FSS were evaluated by means of classical test theories for each of the disease groups. If abnormal fatigue was present in the disease group, the construct of fatigue was evaluated by means of focus group interviews., Results: Fatigue was rare in SMA II patients, but very frequent in patients with CM. The cut-off score designating abnormal fatigue (FSS score ≥ 4) was exceeded by 10% of the SMA II patients in contrast to 76% of the CM patients, of whom 52% suffered from severe fatigue (FSS score ≥ 5). Focus group interviews demonstrated that fatigue had an adverse effect on motor function, level of energy, social relations, and identity, four themes that could be captured by the FSS. The FSS and VAS were strongly correlated in SMA II patients, but only moderately in CM patients. The psychometric properties indicated that the original FSS with nine items measures more than one construct of fatigue, eliminating the first two items improved scale properties., Conclusion: This study demonstrates that fatigue is characteristic in patients with CM, but not in patients with SMA II, in whom fatigue does not seem to impact daily life. While fatigue in CM and SMA II can be captured by FSS, omitting the first two items of the scale will improve its properties and content validity, along with comprehension of the scale itself.

Introduction: Trial design for SMA depends on meaningful rating scales to assess outcomes. In this study Rasch methodology was applied to 9 motor scales in spinal muscular atrophy (SMA)., Methods: Data from all 3 SMA types were provided by research groups for 9 commonly used scales. Rasch methodology assessed the ordering of response option thresholds, tests of fit, spread of item locations, residual correlations, and person separation index., Results: Each scale had good reliability. However, several issues impacting scale validity were identified, including the extent that items defined clinically meaningful constructs and how well each scale measured performance across the SMA spectrum., Conclusions: The sensitivity and potential utility of each SMA scale as outcome measures for trials could be improved by establishing clear definitions of what is measured, reconsidering items that misfit and items whose response categories have reversed thresholds, and adding new items at the extremes of scale ranges., (Copyright © 2013 Wiley Periodicals, Inc.)

Introduction: The Egen Klassifikation (EK) scale is a questionnaire that assesses the functional capacity of people with Duchenne muscular dystrophy and spinal muscular atrophy who can't walk and use a wheelchair., Aim: To translate and validate the scale for the Spanish population as a tool for measuring functional capacity in these patients., Patients and Methods: We performed first a translation-back translation of EK in the Spanish population and subsequently practiced reliability study of Spanish translated version of the scale. It held three measurements in 30 patients aged 4 to 67 years. Two of these measurements were performed by the same observer, and the third by a second observer to assess intra- and inter-observer agreement., Results: The values refer to the total score of the scale items, EK sum, and reflect a reliability index of 0.995. They also show a higher reliability to 0.86 in each of the items in both intra- and inter-observations observer., Conclusions: The Spanish version of the EK is a valid and reliable instrument for the Spanish population as a tool for measuring functional capacity in patients with Duchenne muscular dystrophy and spinal muscular atrophy are not ambulatory and use a wheelchair.

Whether muscle strength deteriorates with time in spinal muscular atrophy (SMA) types II and III is still debated. We present a long-term follow-up study on muscle strength in 30 patients with SMA types II and III. Median follow-up time was 17 years. Median number of assessments was four. All patients were assessed by Manual Muscle Testing (MMT), Brooke upper limb scale and EK scale. There was a difference in muscle strength of the upper limbs from first to last assessment in SMA II (p<0.0001) and SMA III patients (p<0.02). In SMA II patients, the rate of yearly decline in strength (% MRC score) was 0.22 units (p<0.03). The decline was independent of the grade of muscle strength at entry. In SMA II patients the decline in muscle strength was reflected in a loss upper limb function as measured by Brooke upper limb scale (p<0.0001) and motor function as measured by EK scale (p<0.0001), a loss of great importance to the patients' need for practical assistance. This study demonstrates loss of muscle strength over time in SMA II and III patients. Because of the very slow deterioration, it takes years to detect this change, which has to be taken into account in future treatment trials., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Aim: To study life-experiences of people living with Duchenne's muscular dystrophy (DMD), home mechanical ventilation (HMV) and physical impairment., Background: Since the introduction of invasive HMV in the late 1980s people with DMD in Denmark live longer and have the experience of adulthood and a high degree of physical dependency., Method: Nineteen patients with DMD and invasive HMV were interviewed in 2007. The interviews were recorded, transcribed verbatim and analysed according to a method inspired by Ricoeur's theory of interpretation., Findings: HMV not only extended the participants lifespan, it also gave them the capacity to live an active life. They were totally dependent in everyday living, but in spite of this, they did not see themselves as physically impaired. They realised that there were activities that were physically impossible, but they considered themselves to be just the same person they had always been. This dependency was described as "independent dependency"., Conclusion: The lived-experience of physical impairment is found to be "independent dependency" in an active life. To solve problems with loneliness, society needs to work with prejudice and misunderstanding and for better physical accessibility to enable full participation.

Aim: This paper is a report of a study from a patient perspective of the life experiences with home mechanical ventilation among young men with Duchenne muscular dystrophy., Background: People with chronic respiratory failure due to neuromuscular diseases have been offered life-long ventilator support at home for more than a decade. People having this treatment are positive about it and agree on having made the right choice about receiving it., Method: Nineteen people with Duchenne muscular dystrophy and invasive home mechanical ventilation were interviewed in 2007. The interviews were tape-recorded, transcribed verbatim and analysed according to a method inspired by Ricoeur's theory of interpretation, which consists of: a naive reading, a structural analysis, and a critical analysis and discussion., Findings: The participants described how the ventilators had saved their lives and were the best thing that had happened to them, but they had had difficulty making the decision of when to start invasive ventilation. Invasive ventilation was preferred to non-invasive ventilation by those who had experienced both. The participants wanted individualized care tailored to their needs in the home setting. Problems were described as being due to both human and technical factors, and sometimes resulted in inadequate ventilation., Conclusion: Society needs to discuss if it is a basic human right to be able to breathe, and whether people with Duchenne muscular dystrophy therefore have the right to invasive home mechanical ventilation. Healthcare professionals need to guide ventilator-users in decision-making about when to receive invasive home mechanical ventilation.

The aims of this study were to evaluate muscle strength, functional abilities, contractures and Forced Vital Capacity in a population of 54 spinal muscular atrophy (SMA) type II patients between the ages of 5 and 70, and to evaluate the applicability of conventional assessment methods. The patients were evaluated by means of functional scales, muscles tests, joint motion measurement and Forced Vital Capacity test. There was a significant score difference in functional tests and muscle tests as well as in the sum of contractures between younger individuals (or= 21years). The functional scales were not sensitive enough to differentiate among the most impaired persons. A reduced Manual Muscle Test score of the upper limbs was found to differentiate more precisely among individuals than a total score derived from testing 38 muscle groups. There is a need for clinical tools that can evaluate patients with SMA type II of all ages and with severely reduced functional abilities.

Outcomes from a developmental instructional training course for youths with congenital physical disability have been investigated for the purpose of clarifying whether or not the participants' personal competencies in terms of living an independent life were developed and whether or not these competencies were maintained after termination of the project. In the course of the intervention, there was focus on user involvement and each participant defined his own occupational performance problems, articulated specific goals for the intervention and evaluated the results by means of the Canadian Occupational Performance Measure (COPM). Eight young adults participated in the course from 16-26 months with a follow-up evaluation 10-20 months later. Changes in COPM scores on performance and satisfaction indicate that the participants developed personal competencies and that it was possible to maintain some of these competencies after completion of the course.

Mechanical ventilation of patients with Duchenne muscular dystrophy continues to be a subject of study. The purpose was to estimate prevalence, incidence, mortality and use of mechanical ventilation in the total Duchenne muscular dystrophy population in Denmark between 1977 and 2001 and further, to reconstruct the introduction of mechanical ventilation to assess the role of the patient organization. Study objects were collected from five sources and verifiable cases identified. Negotiations between health authorities and the patient organization constituted main empirical data for the reconstruction. While overall incidence remained stable at 2.0 per 10(5), prevalence rose from 3.1 to 5.5 per 10(5), mortality fell from 4.7 to 2.6 per 100 years at risk and prevalence of Duchenne muscular dystrophy ventilator users rose from 0.9 to 43.4 per 100. We conclude that survival of Duchenne muscular dystrophy patients has increased and ventilator use is probably a main reason. The patient organization exercised a key role but acted upon preconditions created by other players.

A 30-month prospective study of 27 Scandinavian boys with confirmed diagnosis of Duchenne muscular dystrophy was carried out to construct profiles of the natural history of the disease. Assessments which included measures of voluntary muscle strength and function were done at 3 monthly intervals except for the first and second which were separated by 1 month. Recently developed statistical methods for analysis of longitudinal data with repeated observations on the same individual were used avoiding the problem of induced serial correlations. This allowed for the construction of both reference and prediction profiles for the variables %MRC, motor ability, walking time for 10 m and the sum of myometry of seven muscle groups.

A 30-month prospective randomized study of 27 Scandinavian boys with confirmed diagnosis of Duchenne muscular dystrophy was done to compare the effect of passive stretching combined with the use of night splints (group A) or passive stretching (group B) on the evolution of Tendo Achilles contractures. Assessments were based on the methodology of Scott et al. (Muscle Nerve 1982;5:291-301)Analysis of the pattern and mechanism of dropout was done to eliminate bias between the two groups. Logistic regression showed that Tendo Achilles contracture was the most important variable (P=0.0020) for dropout. Methods of statistical analysis for longitudinal data avoiding induced serial correlations were used in the analysis. The expected annual change in Tendo Achilles contracture was found to be 23% less in group A than in group B after equalization for total muscle strength (%MRC).