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Updated: Jun 1, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy
Marianela Schiava1, John P Bourke1, Jordi Díaz-Manera1
1John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK; Newcastle Hospitals NHS Foundation Trusts, Newcastle upon Tyne, UK.
Insights
Maintaining ambulation longer in Duchenne muscular dystrophy (DMD) is linked to better heart function in adulthood. Preserving the ability to walk may not negatively affect cardiac health in advanced DMD stages.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Cardiomyopathy is a frequent complication in Duchenne muscular dystrophy (DMD).
- Glucocorticoid and ACE inhibitor treatments are standard for DMD patients.
- Understanding factors influencing cardiac function in DMD is crucial.
Purpose of the Study:
- To examine the association between age at loss of ambulation (LOA) and late-stage left ventricular ejection fraction (LVEF) in DMD patients.
- To determine if prolonged ambulation impacts cardiac function in advanced DMD.
Main Methods:
- Retrospective single-center study of 84 individuals (>16 years old) with DMD.
- Regression analyses to correlate age at LOA with LVEF.
- Sensitivity analyses to confirm associations, excluding specific genotypes and phenotypes.
Main Results:
- A positive correlation was found between later age at LOA and higher LVEF in adulthood.
- Each additional year of ambulation increased the odds of a higher LVEF category by 35%.
- Individuals losing ambulation before 11.92 years reached LVEF <40% significantly earlier.
Conclusions:
- Prolonging ambulation may not adversely affect cardiac function in advanced DMD stages.
- Later loss of ambulation is associated with better preserved left ventricular ejection fraction.
- These findings support the potential benefits of maintaining ambulation for cardiac health in DMD.
Abstract:
Cardiomyopathy is a common co-morbidity in individuals with Duchenne muscular dystrophy (DMD). This retrospective single centre study investigated the relationship between age at loss of ambulation (LOA) and late stage left ventricular ejection fraction (LVEF) in 84 individuals (> 16 years old) with DMD taking glucocorticoid and ACE inhibitors treatment. Regression analyses showed a positive correlation between later age at LOA and higher LVEF in adulthood (linear regression estimate 1.49, 95 % CI: 0.13-2.84, p = 0.03). Each additional year of ambulation increased the odds of displaying a higher LVEF category (LVEF 40 %, 40 - 50 % or 50 %) by 35 % (p = 0.003). Sensitivity models excluding cardioprotective genotypes (absence of Dp116 isoform) and mild motor phenotypes (out of frame deletions amenable to skip exon 44 and 45) confirmed this association while models including age at respiratory impairment did not improve the model. Individuals who lost ambulation before age 11.92 (ROC AUC 0.73, 95 % CI: 0.60-0.85) reached a LVEF <40 % 5.21 years earlier than those who lost ambulation after that age (adjusted restricted mean survival time 19.08 vs 24.29 years, p < 0.001). These findings may suggest that prolonging ambulation does not impact cardiac function adversely in advance stages of DMD.
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