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. 2022 Feb;37(2):147-156.
doi: 10.1007/s10654-021-00819-4. Epub 2021 Nov 21.

One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure

Lisa Wahlgren  1   2 , Anna-Karin Kroksmark  3   4 , Mar Tulinius  3   5 , Kalliopi Sofou  3   5
Affiliations

One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure

Lisa Wahlgren et al. Eur J Epidemiol. 2022 Feb.

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.

Keywords: Cause of death; Duchenne muscular dystrophy; Epidemiology; Neuromuscular; Prevalence; Survival.

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Conflict of interest statement

None.

Figures

Fig. 1
Fig. 1
Flowchart: Identification and inclusion procedure of the Swedish patients with DMD born 1970–2019. Patients identified through: a the National Quality Registry for Neuromuscular Diseases in Sweden (NMiS.) b the Swedish Registry of Respiratory Failure (Swedevox) c all pathology laboratories analyzing skeletal muscle biopsies in Sweden d. an inquiry to all neurology clinics and pulmonary clinics in Sweden e. the Swedish neuromuscular network. f a pilot study for patients with DMD deceased between 2000 and 2010 [26]. DMD = Duchenne muscular dystrophy, BMD = Becker muscular dystrophy, n = number
Fig. 2
Fig. 2
Kaplan–Meier curve for survival estimate for Swedish patients with DMD, born 1980–2009. (including alive patients censored on 31st December 2019). Median survival 29.9 years of age (95% CI 27.1–31.2). Shaded blue area indicates the 95% confidence interval. DMD = Duchenne muscular dystrophy, CI = Confidence Interval
Fig. 3
Fig. 3
Kaplan–Meier curve for survival estimate for Swedish patients with DMD presented per birth decades for population born 1980–2009. (including alive patients censored on 31st December 2019). Shaded areas indicate the 95% confidence interval. Median survival for patients born 1980–89 was 29.6 years of age (95% CI 26.5–32.3). DMD = Duchenne muscular dystrophy, CI = Confidence Interval
Fig. 4
Fig. 4
Differences in age between cardiopulmonary and non-cardiopulmonary causes of death in Swedish deceased DMD patients, born 1970–2019. There is a mean difference of 4.28 years (95% CI 1.41–7.33) (p = 0.004) between cardiopulmonary causes of death with a mean age of 25.2 (SD 6.5) years compared with non-cardiopulmonary causes of death with a mean age of 21.0 (SD 8.2) years. Line in box represents median age and diamond represents mean age. DMD = Duchenne muscular dystrophy, CI = Confidence Interval, SD = Standard Deviation
Fig. 5
Fig. 5
Barchart of the proportion of Swedish deceased DMD patients, born 1970–2019, with non-cardiopulmonary causes of death in each age class; < 20 (n = 14/37; 37.8% (CI 95% 22.5–55.2)), 20–30 (n = 10/66; 15.2% (CI 95% 7.5–26.1)) and 30 + (n = 2/26; 7.7% (CI 95% 1.0–25.1)). DMD = Duchenne muscular dystrophy, n = number, CI = Confidence Interval
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