Muscular Dystrophy

1. By: Alisha Kunz, Julia Rodenberg, Tyler Traisman and Nathan Wegner Muscular Dystrophy Goanimate

2. Muscular dystrophy is a group of muscle disease that weaken the musculoskeletal and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. There are nine major forms of MD. They are Duchenne MD, Becker MD, Limb-Girdle MD, Emery-Dreifuss MD, Distal MD, Congenial MD, Myotonic MD, Oculopharyngeal MD and Facioscapulohumeral MD. What is Muscular Dystrophy?

3. Types of muscular dystrophy cont. • Duchenne MD is the most common form of childhood dystrophy. • Duchenne MD occurs in 1 in 3,500 boys. • Becker MD, much milder than Duchenne. Affects 1 in 30,000 boys. • Limb-girdle MD appears in teens and young adults and affects both males and females. • Faciospulohumeral MD also appears in teenage and early adult years and affects males and females. Facioscapulohumeral refers to muscles that the face, shoulder blades and upper arm. • Congenital MD is present at birth and can affect males and females.

4. Types of muscular dystrophy cont. • Emery-Dreifuss MD is a rare form of MD that appears in childhood to early teens in only males. • Distal MD affects adult men and women and causes in the muscles furthest away from the center. • Myotonic MD, also called Steinert’s Disease, is the most common for of MD in adults. • Oculopharyngeal MD appears in middle aged men and women. Oculopharyngeal means eye throat. • Oculopharyngeal MD appears in middle aged men and women. Oculopharyngeal means eye throat.

5. Duchenne Timeline Symptoms of Muscular Dystrophy

6. A newborn child will be very similar to other babies, the child can roll over and function as a “normal” child. Once child begins walking, parents may notice difficulty balancing as well as standing. May notice child using gowers to stand “walking up legs” to stand up almost like a tripod. Muscular Dystrophy --- newborn to two Years old

7. Toddler to teen • Child will begin walking later then most children. • Child will have poor balance • Child will have difficult time walking on stairs • Child will have enlarged calf muscles • Difficulty running and jumping

9. Every type of MD is caused by distinct genetic mutations. MD are usually a group of inherited conditions. They are passed down the family line through genetics. Causes of MD-Inheritance

10. Spontaneous mutation in mother’s egg. Spontaneous mutations can also occur during the development of the embryo Embryonic Mutations

11. Incorrect or missing information in the genes that produce dystrophin. Faulty Genes

12. X-Linked Recessive Genetic Defects

13. X-linked recessive genetic defects - how boys are affected

14. There is no cure for any form of muscular dystrophy, but medications and therapy can slow the course of the disease. Human trials of gene therapy using dystrophin, are currently in the works. Treatment

15. Richman, S., & Schub, T. (2011). Muscular Dystrophy, Duchenne's • Benaroch, R. (2012, March 12). WebMD Medical Reference • Kaneshiro, N. K. (2010, March 9). Duchenne muscular dystrophy. In Penn medicine health encyclopedia. Retrieved May 9, 2012, from http://www.pennmedicine.org/encyclopedia/em_DisplayArticle.aspx?gcid=000705&ptid=1 • Muscular dystrophies - an overview (2009, November 24). In Patient.co.uk. Retrieved May 9, 2012, from http://www.patient.co.uk/health/Muscular-Dystrophies-An-Overview.htm • Mayo clinic staff, . (2012, January 18). Muscular dystrophy causes. In Mayo clinic. Retrieved May 9, 2012, from http://www.mayoclinic.com/health/muscular-dystrophy/DS00200/DSECTION=causes References