Duchenne muscular dystrophy is a genetic disorder caused by the absence of the dystrophin protein. It is characterized by progressive muscle degeneration and weakness. Symptoms begin in early childhood and worsen over time, often resulting in the need for a wheelchair in the early teens. While there is no cure, treatment focuses on managing symptoms and complications to improve quality of life. Research is ongoing to develop new treatments such as stem cell therapy and gene therapy.

1. Duchenne Muscular Dystrophy Michaela Shaffer Periods 1 and 2 Genetic Disorders

2. Define the most common of several childhood muscular dystrophies , it is an inherited disorder ( X-linked recessive ) with progressive degeneration of muscle , onset is generally before age 6 years People with DMD lose muscle all there lives , but it is usually not noticed until a parent or caretaker finds unusual walking and/or talking around the age of 3

4. The figure shown above is the pictorial representation of the incidence of DMD. The figure shown below is the pictorial representation of the incidence of DMD in boys.

5. Cause DMD is caused by a mutation in the gene that produces an important muscle protein called dystrophin , which is not produced The Muscle-Fiber Membrane Muscles are made up of bundles of fibers (cells). A group of interdependent proteins along the membrane surrounding each fiber helps to keep muscle cells working properly. When one of these proteins, dystrophin, is absent, the result is Duchenne muscular dystrophy.

6. How boys are affected

7. How girls are affected

9. Alternative Names

15. Treatment There is no cure yet for DMD, however case and symptom management is currently “ successful ” Right now there are many clinical trials in process , like administering Albuterol (beta adrenergic receptor agonist drug that increases strength and muscle mass ) also, they want to treat with Utrophin (sometimes can be substituted for dystrophin ) Embryonic stem cell transplants is another treatment they are looking into. It is hoped that injecting healthy, nonspecialized stem cells into DMD victims will cause the stem cells to specialize and produce structurally and functionally correct dystrophin . If dystrophin can be produced , it may slow the progression of the disease, or cure it altogether.

18. Works Cited http:// depts.washington.edu/pwdlearn/web/glossary/glossary.htm http://www.mda.org/publications/fa-dmdbmd-family.html http://health.nytimes.com/health/guides/disease/duchenne-muscular-dystrophy/overview.html http://www.ikm.jmu.edu/Buttsjl/ISAT493/Duchenne%20Muscular%20Dystrophy/duchennesymptoms.html http://genetics.kaiser.org/home/genetics101highlights.htm http://www.nlm.nih.gov/medlineplus/ency/imagepages/19097.htm