Several studies indicate that prognosis for survival in Duchenne muscular dystrophy (DMD) has improved in recent decades. However, published evidence is inconclusive and some estimates may be obsolete due to improvements in standards of care, in particular the routine use of mechanical ventilatory support in advanced stages of the disease. In this systematic review and meta-analysis (PROSPERO identifier: CRD42019121800), we searched MEDLINE (through PubMed), CINAHL, Embase, PsycINFO, and Web of Science for studies published from inception up until December 31, 2018, reporting results of life expectancy in DMD. We pooled median survival estimates from individual studies using the median of medians, and weighted median of medians, methods. Risk of bias was established with the Newcastle–Ottawa Scale. Results were stratified by ventilatory support and risk of bias. We identified 15 publications involving 2662 patients from 12 countries from all inhabited continents except Africa. Median life expectancy without ventilatory support ranged between 14.4 and 27.0 years (pooled median: 19.0 years, 95% CI 18.0–20.9; weighted pooled median: 19.4 years, 18.2–20.1). Median life expectancy with ventilatory support, introduced in most settings in the 1990s, ranged between 21.0 and 39.6 years (pooled median: 29.9 years, 26.5–30.8; weighted pooled median: 31.8 years, 29.3–36.2). Risk of bias had little impact on pooled results. In conclusion, median life expectancy at birth in DMD seems to have improved considerably during the last decades. With current standards of care, many patients with DMD can now expect to live into their fourth decade of life.

/pdf/life-expectancy-at-birth-in-duchenne-muscular-dystrophy-a-b8zpxpje2j.pdf

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

Aim: To investigate the differences in attainment of developmental milestones between young males with Duchenne muscular dystrophy (DMD) and young males from the general population. Method: As part of the case-control 4D-DMD study (Detection by Developmental Delay in Dutch boys with Duchenne Muscular Dystrophy), data on developmental milestones for 76 young males with DMD and 12 414 young males from a control group were extracted from the health care records of youth health care services. The characteristics of DMD were acquired from questionnaires completed by parents. Logistic regression analyses were performed with milestone attainment (yes/no) as the dependent variable and DMD (yes/no) as the independent variable, with and without adjustment for age at visit. Results: The mean number of available milestones was 43 (standard deviation [SD]=13, range: 1-59) in the DMD group and 40 (SD=15, range: 1-60) in the control group. The presence of developmental delay was evident at 2 to 3 months of age, with a higher proportion of young males with DMD failing to attain milestones of gross/fine motor activity, adaptive behaviour, personal/social behaviour, and communication (range age-adjusted odds ratios [ORs]=2.3-4.0, p<0.01). Between 12 and 36 months of age, differences in the attainment of developmental milestones concerning gross motor activity increased with age (range age-adjusted ORs=10.3-532, p<0.001). We also found differences in developmental milestones concerning fine motor activity, adaptive behaviour, personal/social behaviour, and communication between 12 and 48 months of age (range age-adjusted ORs=2.5-9.7, p<0.01). Interpretation: We found delays in the attainment of motor and non-motor milestones in young males with DMD compared to the control group. Such delays were already evident a few months after birth. Developmental milestones that show a delay in attainment have the potential to aid the earlier diagnosis of DMD.

Early developmental milestones in Duchenne muscular dystrophy.

Home mechanical ventilation is an established treatment for chronic respiratory failure resulting in improved survival and quality of life. Technological advancement, evolving health care reimbursement systems and newly implemented national guidelines result in increased utilization worldwide. Prevalence shows great geographical variations and data on East-Central European practice has been scarce to date. The aim of the current study was to evaluate prevalence and characteristics of home mechanical ventilation in Hungary. We conducted a nationwide study using an online survey focusing on patients receiving ventilatory support at home. The survey focused on characterization of the site (affiliation, type), experience with home mechanical ventilation, number of patients treated, indication for home mechanical ventilation (disease type), description of home mechanical ventilation (invasive/noninvasive, ventilation hours, duration of ventilation) and description of the care provided (type of follow up visits, hospitalization need, reimbursement). Our survey uncovered a total of 384 patients amounting to a prevalence of 3.9/100,000 in Hungary. 10.4% of patients received invasive, while 89.6% received noninvasive ventilation. The most frequent diagnosis was central hypopnea syndromes (60%), while pulmonary (20%), neuromuscular (11%) and chest wall disorders (7%) were less frequent indications. Daily ventilation need was less than 8 h in 74.2%, between 8 and 16 h in 15.4% and more than 16 h in 10.4% of patients reported. When comparing sites with a limited (  50 patients) case number, we found the former had significantly higher ratio of neuromuscular conditions, were more likely to ventilate invasively, with more than 16 h/day ventilation need and were more likely to provide home visits and readmit patients (p < 0,001). Our results show a reasonable current estimate and characterization of home mechanical ventilation practice in Hungary. Although a growing practice can be assumed, current prevalence is still markedly reduced compared to international data reported, the duality of current data hinting to a possible gap in diagnosis and care for more dependent patients. This points to the importance of establishing home mechanical ventilation centers, where increased experience will enable state of the art care to more dependent patients as well, increasing overall prevalence.

/pdf/national-survey-current-prevalence-and-characteristics-of-zodk5r49zj.pdf

National survey: current prevalence and characteristics of home mechanical ventilation in Hungary

Performing daily activities independently becomes more difficult in time for patients with Duchenne muscular dystrophy (DMD) due to muscle weakness. When performing seated daily activities, the trunk plays an indispensable role besides the upper extremities. However, knowledge is lacking on the interaction between trunk and upper extremities. Therefore the aim was to investigate whether patients with DMD use trunk movement to compensate for reduced arm function when performing seated tasks, and whether this is related to increased muscle activity. Eighteen boys with DMD and twenty-five healthy controls (HC) performed several tasks when sitting unsupported, like reaching (and placing) forward and sideward, drinking and displacing a dinner plate. Maximum joint torque and maximum surface electromyography (sEMG) were measured during maximum voluntary isometric contractions. Three-dimensional movements and normalized sEMG when performing tasks were analyzed. Significantly decreased maximum joint torque was found in DMD patients compared to HC. Trunk and shoulder torques were already decreased in early disease stages. However, only maximum trunk rotation and shoulder abduction torque showed a significant association with Brooke scale. In all reaching and daily tasks, the range of motion in lateral bending and/or flexion-extension was significantly larger in DMD patients compared to HC. The trunk movements did not significantly increase with task difficulty (e.g. increasing object weight) or Brooke scale. Normalized muscle activity was significantly higher in DMD patients for all tasks and muscles. Boys with DMD use increased trunk movements to compensate for reduced arm function, even when performing relatively simple tasks. This was combined with significantly increased normalized muscle activity. Clinicians should take the trunk into account when assessing function and for intervention development, because DMD patients may appear to have a good trunk function, but percentage of muscle capacity used to perform tasks is increased.

/pdf/don-t-forget-the-trunk-in-duchenne-muscular-dystrophy-3b8640wr39.pdf

Don’t forget the trunk in Duchenne muscular dystrophy patients: more muscle weakness and compensation than expected

Objective: To identify the best quantitative fat-water MRI biomarker for disease progression of leg muscles in Becker muscular dystrophy (BMD) by applying a stepwise approach based on standardized response mean (SRM) over 24 months, correlations with baseline ambulatory tests and reproducibility. Methods: Dixon fat-water imaging was performed at baseline (n=24) and 24 months (n=20). Fat fractions (FF) were calculated for three center slices and the whole muscles for 19 muscles and six muscle groups. Contractile cross sectional area (cCSA) was obtained from the center slice. Functional assessments included knee extension and flexion force, and three ambulatory tests (North Star Ambulatory Assessment (NSAA), 10-meter run, six-minute walking test). MR parameters were selected using SRM (≥0.8) and correlation with all ambulatory tests (rho≤-0.8). Parameters were evaluated based on intraclass correlation coefficient (ICC) and standard deviation (SD) of the difference. Sample sizes (SS) were calculated assuming 50% reduction in disease progression over 24 months in a clinical trial with 1:1 randomization. Results: Median whole muscle FF increased between 0.2-2.6% without consistent cCSA changes. High SRMs and strong functional correlations were found for eight FF but no cCSA parameters. All parameters showed excellent ICC (≥0.999) and similar SD of the inter-rater difference. Whole thigh three center slices FF was the best biomarker (SRM=1.04, correlations rho≤-0.81, ICC=1.00, SD=0.23%, SS=59) based on low SD and acquisition and analysis time. Conclusion: In BMD, median FF of all muscles increased over 24 months. Whole thigh three center slices FF reduced the SS by approximately 40% compared to NSAA.

https://n.neurology.org/content/neurology/97/5/e513.full.pdf

Selection Approach to Identify the Optimal Biomarker Using Quantitative Muscle MRI and Functional Assessments in Becker Muscular Dystrophy.

Background: Duchenne muscular dystrophy (DMD) is a progressive muscle disease. No curative therapy is currently available, but in recent decades standards of care have improved. These improvements include the use of corticosteroids and mechanical ventilation. Objective: To present a detailed population based report of the DMD disease course in The Netherlands (1980–2006) and evaluate the effect of changes in care by comparing it with an historical Dutch DMD cohort (1961–1974). Methods: Information about DMD patients was gathered through the Dutch Dystrophinopathy Database using a standardized questionnaire and information from treating physicians. Results: The study population involved 336DMDpatients (70% of the estimated prevalence), of whom 285 were still alive. Mean age at disease milestones was: diagnosis 4.3 years, wheelchair dependence 9.7 years, scoliosis surgery 14 years, cardiomyopathy (fractional shortening <27%) 15 years, mechanical ventilation 17 years and death 19 years.Within our cohort, corticosteroid use was associated with an increased age of wheelchair dependence from 9.8 to 11.6 years (p < 0.001). When comparing the recent cohort to the historical cohort, mean survival improved from 17 to 27 years (p < 0.001). Conclusion: The current study gives detailed information about the disease course of DMD patients, provides evidence for the positive effect of steroid treatment and mechanical ventilation and supports the use of patient registries as a valuable resource for evaluating improvements in care.

/pdf/forty-five-years-of-duchenne-muscular-dystrophy-in-the-28ue2g43uv.pdf

Forty-five years of Duchenne muscular dystrophy in The Netherlands

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Forty-five years of Duchenne muscular dystrophy in The Netherlands