Abstract
Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder with increasing life expectancy from late teens to over 30 years of age. The aim of this nationwide study was to explore the prevalence, life expectancy and leading causes of death in patients with DMD in Sweden. Patients with DMD were identified through the National Quality Registry for Neuromuscular Diseases in Sweden, the Swedish Registry of Respiratory Failure, pathology laboratories, neurology and respiratory clinics, and the national network for neuromuscular diseases. Age and cause of death were retrieved from the Cause of Death Registry and cross-checked with medical records. 373 DMD patients born 1970–2019 were identified, of whom 129 patients deceased during the study period. Point prevalence of adult patients with DMD on December 31st 2019 was 3.2 per 100,000 adult males. Birth prevalence was 19.2 per 100,000 male births. Median survival was 29.9 years, the leading cause of death being cardiopulmonary in 79.9% of patients. Non-cardiopulmonary causes of death (20.1% of patients) mainly pertained to injury-related pulmonary embolism (1.3 per 1000 person-years), gastrointestinal complications (1.0 per 1000 person-years), stroke (0.6 per 1000 person-years) and unnatural deaths (1.6 per 1000 person-years). Death from non-cardiopulmonary causes occurred at younger ages (mean 21.0 years, SD 8.2; p = 0.004). Age at loss of independent ambulation did not have significant impact on overall survival (p = 0.26). We found that non-cardiopulmonary causes contribute to higher mortality among younger patients with DMD. We present novel epidemiological data on the increasing population of adult patients with DMD.
Highlights
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with an estimated global birth prevalence of 19.8 per 100,000 live male births [1]
All male patients born since 1st January 1970 who died by 31st December 2019 and were followed at a medical clinic in Sweden with a confirmed diagnosis of DMD were included in the study
Patients were excluded from the study if they had an intermediate form between DMD and Becker muscular dystrophy (BMD) defined as loss of ambulation between 13 and 16 years of age without corticosteroid treatment, or BMD defined as loss of ambulation above 16 years of age, or any other form of muscular dystrophy
Summary
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with an estimated global birth prevalence of 19.8 per 100,000 live male births [1]. In western Sweden, the estimated prevalence is 21.5 per 100,000 school-aged boys [2]. The two most common causes of death in DMD are respiratory and cardiac failure [9,10,11]. Chronic respiratory failure is attributed to weakness of the respiratory muscles and reduced chest wall compliance due to fibrotic changes of the chest wall muscles and scoliosis [12]. The lung compliance may be affected because of micro-atelectatic changes [12]. Acute respiratory failure is common, often triggered by pneumonia or secretion stagnation. The heart is affected by the lack of dystrophin, beginning with myocardial fibrosis in the left ventricular wall behind the mitral valve, to eventually affect the entire left ventricle
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