1 / 10

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy. Erin Kim. What is Duchenne Muscular Dystrophy?. Duchenne Muscular Dystrophy (DMD) is a type of muscular dystrophy is a recessive genetic disorder causing the fast deterioration of muscles. Symptoms.

damian
Download Presentation

Duchenne Muscular Dystrophy

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Duchenne Muscular Dystrophy Erin Kim

  2. What is Duchenne Muscular Dystrophy? • Duchenne Muscular Dystrophy (DMD) is a type of muscular dystrophy is a recessive genetic disorder causing the fast deterioration of muscles.

  3. Symptoms • symptoms usually start to become visible to the naked eye from infancy to around five years old. • When they do start to walk, they walk in a weird way, only walking on the balls of their feet • This is because they have increased calf muscles. However this muscle is very soon replaced by fatty tissue.

  4. DATA: DMD

  5. DATA: IQ • Another symptom of DMD is a slight mental retardation such as dyslexia, or learning disabilities.

  6. Inheritance • The Dystrophin gene is a gene located on the X chromosome (sex-linked disease) • Females are rarely affected (X- inactivation) • 30% of dystrophin mutations occur spontaneously

  7. Tests • electromyopathy test – insertion of needle, recording of electricity. (When muscles contract and release, there is usually an electric current flowing through the tissue) • “Serum CreatineKinase Test” looks for a build up of kinase in the bloodstream • muscle biopsy- Here a piece of muscle is removed and examined. If the cells are big and filled with fatty tissue then that means that person has DMD electromyopathy test

  8. Primary Cause/ Life Span • DMD is caused by the lack of Dystrophin, (a protein) in the cell membrane of muscles • People with DMD usually die by 20 years of age because their heart and diaphragm have deteriorated.

  9. Cure? Support groups? • Currently there is no cure for DMD, but many studies are being done to try and find cures. • Many DMD patients go to physical therapy to keep their muscles in the best condition they can • The Muscular Dystrophy Association (MDA) is a large support group that helps people with muscular disorders

  10. Bibliography • "AllRefer Health - X-linked recessive genetic defects - Duchenne muscular dystrophy Pictures & Images (Pseudohypertrophic muscular dystrophy, Muscular dystrophy - Duchenne type)." AllRefer Health. N.p., n.d. Web. 9 Mar. 2011. <http://health.allrefer.com/health/duchenne-muscular-dystrophy-x-linked-recessive-genetic-defects.html>. 
 

"Cure Duchenne Muscular Dystrophy PSA Video." Meo News. N.p., n.d. Web. 9 Mar. 2011. <http://www.meonews.com/cure-duchenne-muscular-dystrophy-psa-video>. 

"DMD." Parent Project. Parent Project Muscular Dystrophy, n.d. Web. 9 Mar. 2011. <www.parentprojectmd.org.np/Contents/Main/DMD_Details.html>. 
 
"DMD/BMD portal: Muscular dystrophy | The Central Database of Czech DMD/BMD Muscular Dystrophy Patients." DMD/BMD portal: Project | The Central Database of Czech DMD/BMD Muscular Dystrophy Patients. N.p., n.d. Web. 9 Mar. 2011. <http://dystrofie.registry.cz/index.php?f=muscular-dystrophy>. 
 
rne. "eMJA: Duchenne muscular dystrophy: hopes for the sesquicentenary." eMJA The Medical Journal of Australia. N.p., n.d. Web. 9 Mar. 2011. <http://www.mja.com.au/public/issues/179_09_031103/byr10494_fm.html>. • "Arquivos de Neuro-Psiquiatria - Duchenne muscular dystrophy: alpha-dystroglycanimmunoexpression in skeletal muscle and cognitive performance." SciELO - Scientific Electronic Library Online. N.p., n.d. Web. 9 Mar. 2011. <http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000600015>. 
 

"Method of early detection of Duchenne muscular dystrophy and other neuromuscular disease - Patent 6875418." Patent Searching and Inventing Resources. N.p., n.d. Web. 9 Mar. 2011. <http://www.freepatentsonline.com/6875418.html>. 
 

"Muscular Dystrophies." mda. MDA, n.d. Web. 9 Mar. 2011. <www.mda.org.au/Disorders/Dystrophies/DMD-BMD.asp>.

More Related