Duchenne Muscular Dystrophy

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© 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare Duchenne Muscular Dystrophy.

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Presentation transcript:

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 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/controversy-continues-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.]