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

Abstract

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.

Duchenne Muscular Dystrophy: recent advances in protein biomarkers and the clinical application

“…The disease causes initially, delay of motor milestones and as the disease progresses, loss of motor function, resulting in a complete loss of ambulation at age between 8 and 14 years [11], severe dilated cardiomyopathy and respiratory insufficiency [14]. The median life expectancy estimated across 12 countries, is between 19.6 and 20.4 years, for patients that have not received respiratory support and between 28.9 and 30.6 years for patients using respiratory aid [15]. DMD is an X-linked chromosomal-inherited recessive disease, caused by mutations in the DMD gene.…”

New Therapeutics Options for Pediatric Neuromuscular Disorders

“…Scoliosis, dilative cardiomyopathy, and respiratory failure evolve thereafter and result in premature death without assisted ventilation around 20 years of age (50). Recommendations for standards of care have been published (49,51) and their transformation into clinical practice (e.g., steroid treatment, spinal surgery, noninvasive ventilation) has delayed age at loss of ambulation and substantially increased life expectancy (50,52,53).…”

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

“…During adolescence and young adulthood, respiratory muscle weakness progresses leading patients to need ventilatory assistance, and a dilated cardiomyopathy develops [2]. Despite the significant progress in the medical management of these patients made over the last decades, respiratory and cardiac insufficiencies lead to premature death of these patients in the third to fourth decade of life (median 29.9 years in a recently published meta-analysis study) [4].…”