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Risk score for muscular dystrophy

Nov. 22, 2022, 8:00 AM

by Kelsey Pinckard

Duchenne muscular dystrophy (DMD) is a genetic disorder affecting boys and characterized by progressive muscle loss and weakness.  

This muscle deterioration eventually involves the heart, culminating in cardiac-related death. While some DMD patients survive into their 40s, others have accelerated disease onset and die before adulthood.  

Joseph Starnes, MD, MPH, and colleagues sought to identify warning signs for early mortality in 69 individuals with DMD.  

They used noninvasive imaging techniques including echocardiography to detect left ventricular dysfunction, and gadolinium-based contrast agents in cardiac magnetic resonance imaging to detect myocardial fibrosis. 

Results from these tests were used to create a risk score that could predict which DMD patients had the highest risk of early mortality. 

The research, published in Pediatric Cardiology, describes the risk score, which can be quickly calculated during a routine clinic visit. The identification of DMD patients at risk for early mortality could allow for more intensive treatment, potentially prolonging the life of these individuals.

Co-authors include Kimberly Crum, Kristen George‐Durrett, Justin Godown, MD, David Parra, MD, Larry Markham, MD, and Jonathan Soslow, MD, MSCI.

This work was supported by the National Institutes of Health grants HL123938 and HL141248, the National Center for Advancing Translational Sciences, the Food and Drug Administration Orphan Products Grant, the Fighting Duchenne Foundation, the Fight DMD/Jonah & Emory Discovery Grant, and the Ackerman/Nicholoff Family.

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