What is Duchenne Muscular Dystrophy?
*It is one of nine types of muscular dystrophy and is “characterized by a rapid progression of muscle degeneration.” It is a mutation on the X chromosome that “prevents production of dystrophin.”
History of the Disorder:
*History: DMD is named after French neurologist Guillaume Benjamin Amand Duchenne. He graduated from medical school and in 1842 went to Paris to pursue medical research. He became a clinical researcher and followed his patients around. In 1861 he published a book, “Paraplegie hypertrophique de l'enfance de cause cerebrale” which , in it, described a boy with a type of muscular dystrophy. He was of the first to do a biopsy by obtaining tissue from a living patient and by doing so he concluded that the disorder was of the muscle.
Symptoms:
*Fatigue
*Muscle Weakness
*Difficulty with motor skills (Running or jumping)
*Frequently falls.
*Walks on toes.
*Calves unusually large.
(Symptoms begin at an early age- most are in a wheel chair by age 12)
Causes:
*Caused by a defective gene for dystrophin. It is recessive and defect occurs on the X chromosome.
How is it diagnosed?
DMD is diagnosed by a muscle biopsy or blood test for levels of CK (creatine phosphokinase) Doctors also look at their motor skills and calf muscles (which tend to get big). Diagnosis' are usually on children whose family has a history of the disorder.
Is there a cure? Can it be Prevented?
No, there is no cure as of now. Only treatment to slow symptoms such as mild exercise or a back brace. Even surgery for symptoms such as scoliosis or breathing support. No it cannot be prevented because it is hereditary.
What research is currently being conducted regarding this disorder?
*Current research includes gene therapy. It is the most promising lead scientist have in treating DMD. They did a trial where they injected a virus with the “dystrophin minigene” into the biceps of 6 boys. Unfortunately the results varied too much for a conclusion, so they are still working.
Foundation that supports Duchenne Muscular Dystrophy!
http://www.parentprojectmd.org/site/PageServer?pagename=nws_index
Still don't understand what Duchenne Muscular Dystrophy really is? Maybe this video will help.
Sources
- http://www.ncbi.nlm.nih.gov/books/NBK22263/
- http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm
- http://www.medterms.com/script/main/art.asp?articlekey=11686
- http://www.mda.org.au/Disorders/Dystrophies/DMD-BMD.asp
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- http://www.amsvans.com/blog/2843-recent-findings-in-duchenne-muscular-dystrophy-dmd-research/
Quiz Questions and Answers:
Name 3 symptoms of Duchenne Muscular Dystrophy.
-Fatigue, muscle weakness, & frequent falls.
Is this disorder recessive or dominant & which chromosome is defected?
-The X chromosome.
What is one way DMD is diagnosed?
-Either muscle biopsy or blood test for levels of CK.
Can it be prevented, why or why not?
-No, because it is hereditary.
What is the current research on this disorder?
-Gene therapy.
