1. Duchenne Muscular Dystrophy
Chris Welter

2. Boston Globe via Getty Images
Billy Ellsworth

3. 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

4. Mode of Inheritance X-linked recessive
⅓ of mutations develop independently
The University of Arizona Health Sciences

5. 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

6. Prevalence of Duchenne and Becker Muscular Dystrophies in the United States. Pediatrics March; 135(3):

7. Mechanism Loss of function mutations cause membrane blebbing
Repair mechanisms following blebbing can also be detrimental

8. Treatment Surgery and Physical Therapy
Experimental Drugs recently approved by FDA (Deflazacort)
Fast Tracked to approval: Exondys 51 (Eteplirsen)
FDA

9. Detection
Suspected on the basis of clinical basis, family history, and laboratory findings
Muscle biopsies can display low levels or lacking dystrophin

10. Conclusion
Does Exondys 51 work?

11. Questions?

12. References
1Harris Richard. Controversy Continues Over Muscular Dystrophy Drug, Despite FDA Approval [Internet]. NPR Sep 24 [cited October 30, 2016]. Available from
2National Human Genome Research Institute [Internet]. Learning About Duchenne Muscular Dystrophy; 2013 [cited October 30, 2016]. Available from
3 Muscular Dystrophy Association Inc. What is Duchenne Muscular Dystrophy [Internet] [cited October 30, 2016]. Available from
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): doi: /jgp
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 March; 135(3): [Epub 2015 Feb 16.]