E-Pearl of the Week: What affects the rate of disease progression in Duchenne muscular dystrophy?

July 11, 2012


Interested in submitting an e–Pearl? Click here!

Brought to you by the Resident and Fellow Section of Neurology®.

July 11, 2012

What affects the rate of disease progression in Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is an X–linked recessive disorder caused by a mutation of the dystrophin gene. Affected young boys present with proximal muscle weakness which usually manifests between 2–3 years of age.  The disease inevitably progresses over years, but there is heterogeneity in the rate of progression which is not completely understood. Younger age and treatment with glucocorticoids have been proposed as factors contributing to slower disease progressions. Recent evidence supports a role of the osteopontin gene (SPP1) as a potential disease modifier in DMD. Read more about the importance of the SPP1 genotype in DMD in this week’s issue of Neurology.


1. Mazzone E, Vasco G, Sormani MP, et al. Functional changes in Duchenne muscular dystrophy: a 12–month longitudinal cohort study. Neurology 2011; 77: 250–256.
2. Bello L, Piva L, Barp A, et al. Importance of SSP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology 2012; 79: 159–162.

Submitted by: Jennifer E. Fugate, DO

Disclosure: Dr. Fugate serves on the editorial team for the Neurology Resident and Fellow Section.

For more clinical pearls and other articles of interest to neurology trainees, visit www.neurology.org and click on the link to the Resident and Fellow Pages. Click here to visit the E–Pearl of the Week Archive.

Click here to listen to this week's Neurology® Podcast.