Transcript Duchenne Muscular Dystrophy - Antioch Co-op

Duchenne Muscular
Dystrophy
Chris Welter
Boston Globe via Getty Images
Billy Ellsworth
Introduction
- Duchenne Muscular Dystrophy (DMD)
- Symptoms appear by the age of six in young boys
- Caused by a mutation in the gene for the protein dystrophin
Mode of Inheritance
- X-linked recessive
- ⅓ of mutations develop
independently
The University of Arizona Health Sciences
Clinical Description
- Characterized by progressive
muscle degeneration and weakness
- Caused by lack of the protein
dystrophin
- Dystrophin connects muscle fiber
cytoskeleton to surrounding
extracellular matrix through cell
membrane.
U.S. National Library of Medicine
Prevalence of Duchenne and Becker Muscular Dystrophies in the United States. Pediatrics.
2015 March; 135(3):2014-44.
Mechanism
- Loss of function mutations cause
membrane blebbing
- Repair mechanisms following
blebbing can also be detrimental
Treatment
- Surgery and Physical
Therapy
- Experimental Drugs
recently approved by FDA
(Deflazacort)
- Fast Tracked to approval:
Exondys 51 (Eteplirsen)
FDA
Detection
- Suspected on the basis of clinical basis, family history, and laboratory findings
- Muscle biopsies can display low levels or lacking dystrophin
Conclusion
- Does Exondys 51 work?
Questions?
References
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1Harris
Richard. Controversy Continues Over Muscular Dystrophy Drug, Despite FDA Approval [Internet]. NPR. 2016 Sep 24
[cited October 30, 2016]. Available from http://www.npr.org/sections/health-shots/2016/09/24/495174472/controversycontinues-over-muscular-dystrophy-drug-despite-fda-approval
2National Human Genome Research Institute [Internet]. Learning About Duchenne Muscular Dystrophy; 2013 [cited October
30, 2016]. Available from https://www.genome.gov/19518854/#
3 Muscular Dystrophy Association Inc. What is Duchenne Muscular Dystrophy [Internet]. 2016 [cited October 30, 2016]. Available
from https://www.mda.org/disease/duchenne-muscular-dystrophy
4Dr. Rosaline Quinlivan. Duchenne Muscular Dystrophy [Internet]. Orphanet. September 2009 [cited October 30, 2016]
5Goldstein JA, McNally EM. Mechanisms of muscle weakness in muscular dystrophy. The Journal of General Physiology.
2010;136(1):29-34. doi:10.1085/jgp.201010436.
6Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GKD, Ciafaloni E, Cunniff C, Druschel CM, Mathews
KD, Matthews DJ, Meaney FJ, Andrews JG, Caspers Conway KM, Fox DJ, Street N, Adams MM, Bolen J, on behalf of the MD
STARnet. Prevalence of Duchenne and Becker Muscular Dystrophies in the United States. Pediatrics. 2015 March;
135(3):2014-44. [Epub 2015 Feb 16.]