Birgit F. Steffensen

The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use.

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.

FRACTURE RISK IN PATIENTS WITH MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY

We aimed at studying fracture risk in patients with Duchennes muscular dystrophy (DMD), Beckers 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.

Adult life with Duchenne muscular dystrophy: Observations among an emerging and unforeseen patient population

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.

A randomized comparative study of two methods for controlling Tendo Achilles contracture in Duchenne muscular dystrophy.

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).

Physical capacity in non‐ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study

The purpose of this study was to describe functional ability, muscle strength, forced vital capacity, and clinical events in participants with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) in the non-ambulatory stages of the diseases. Nineteen non-ambulatory participants with DMD (all males; 13 to 24 years) and 13 with SMA (six males, seven females; 11 to 57 years) were assessed once a year over 5 years. The assessments comprised functional ability measured with the EK scale and upper extremity grade, muscle strength measured with the manual muscle test, and forced vital capacity defined as a percentage of normal values (FVC%). In the DMD group all variables measured deteriorated and there was a direct correlation between them. In the SMA group only muscle strength and FVC% deteriorated and there was no close relation between the variables measured. In the DMD group, 16 participants had cardiorespiratory clinical events leading to death in five cases. In the SMA group only four participants had respiratory clinical events, none leading to death. Although the participants with SMA had been extremely weak and non-ambulatory since early childhood they were older and less exposed to life-threatening events than the participants with DMD.

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

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.

206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014

206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014 Jes Rahbek *, Birgit F. Steffensen , Kate Bushby , Imelda J.M. de Groot c a The National Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark b Newcastle University, Newcastle upon Tyne, UK c Radboud University Medical Centre, Nijmegen, The Netherlands Received 6 May 2015

Physical characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients

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= 20years) and older 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.

Reliability of the EK Scale, a Functional Test for Non-ambulatory Persons with Duchenne Dystrophy

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.

Longitudinal data analysis: an application to construction of a natural history profile of Duchenne muscular dystrophy.

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.