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Duchenne Muscular Dystrophy

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Olivia Berkson

on 2 December 2012

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Transcript of Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy Olivia Berkson
Juliet Mayer
Hailey Blain
Daniel Higinbotham Duchenne Muscular Dystrophy, commonly referred to as DMD, is a rapid degenerative muscle disorder caused by a defect on the gene Xp21.2
It is a pseudohypertrophic muscular dystrophy.
Xp21.2 is the cytogenetic location for the gene coding for the prodection of a protein called Dystrophin.
Dystrophin acts as a shock absorber for the muscles. What is Duchenne Muscular Dystrophy? -Symptoms in children
climbing stairs
standing up
Walk on tip toes
Spinal curvatures
Large calf muscles
Difficulty raising arms Symptoms -Brain function issues
verbal learning
attention focusing
emotional interaction -Common complications
Respiratory failure
Heart Arrhythmias
Decreased mobility
Mental impairments
Congestive heart failure A cure has yet to be developed.
Duchenne Muscle Dystrophy is the most common lethal genetic disorder diagnosed during childhood.
The Dystrophin Gene is one of the biggest in the human genome.
There is no ethnic group that is immune to DMD.
Roughly one in 3,500 boys are born with it every year.
About 1 in every 20,000 boys is living with DMD.
In the U.S. Duchenne affects 400 male children per year.
While 65% of cases are inherited, 35% are caused by random mutations.
Despite an almost complete majority of cases are boys, girls who contain a heterozygous copy of the gene have the potential to experience a limited form of the symptoms.
Roughly one-third of boys with DMD experience some form of mental retardation, but they are rarely extreme cases, and do not progress with the disease. Facts and Statistics X X* X Y XX* XY X*Y XX Blood Tests: Doctors look for an enzyme in the blood called creatine kinase (CK), which accumulates when muscles deteriorate.
Muscle Biopsy: A small piece of muscle tissue is observed under a microscope, allowing a doctor to see any changes caused by DMD. Staining can also be done to detect certain proteins.
Electromyogram: This test measures electrical activity in the muscle and the muscle's response to stimuli from nerves. This allows the doctor to differentiate between a nervous condition and a muscular condition.
Genetic Testing: Doctors can look for DMD, as well as many other forms of muscular dystrophy, by looking for a mutated gene. Testing 1836: Conte and Gioja first observe muscular dystrophy of any kind (Probably Becker MD)

1851: Meyron observes muscular dystrophy in four brothers and suggests that only boys can inherit the disease.

1868: Guillame Duchenne, a French neurologist, observes muscular dystrophy, and lends his name to one of its severest varieties. He calls the affliction “paralysie musculaire pseudo-hypertrophique.”

1984: A prenatal test becomes available to test for DMD.

1986: Researchers find the gene that causes DMD when mutated.

1987: Dystrophin, the protein associated with that gene, is identified and named.

2005: The American Academy of Neurology releases recommendations about the use of corticosteroids to treat DMD. History Treatments: Corticosteroids - cardiac evaluations
- diet and exercise
- respiratory care
- medications/gene therapy Treatments Corticosteroids:
Man-made drugs that mimic the effects of the body’s own hormones
Suppress inflammation and the immune system.
Two corticosteroids, prednisone and deflazacort, are recommended for the treatment
of Duchenne muscular dystrophy.
The only effective drugs in treating DMD.
They are NOT a cure; they only slow the disease's progression.
Side effects include:
Weight gain
Cushingoid appearance (rounded face)
Short stature
Excessive hair growth
Gastrointestinal symptoms
Behavioral changes.
Some side effects can be prevented with a nutritional plan and exercise program. Birth-6 years of age- Early signs of DMD.
By age 10, the diaphragm and other muscles that operate lungs weaken.
7-12, Children are usually in a wheelchair. After they are confined to a wheelchair, most boys develop scoliosis.
Teenagers have heart and respiratory issues and weakness.
Early 20's- Ventilator, increased respiratory and heart problems.
25 is the average age of death, but some may live longer. Quality of life is very low at this point. Progression Bibliography About Duchenne Muscular Dystrophy: Facts & statistics. (2010, March 01). Retrieved
from http://www.samsdaytexas.org/2010/03/01/facts-statistics/

American Academy Of Neurology (2005, January 11). New Guideline: Corticosteroids Recommended For Duchenne Muscular Dystrophy. ScienceDaily. Retrieved June 27, 2012, from http://www.sciencedaily.com /releases/2005/01/050111115101.htm

Bendixen, R. M., Senesac, C., Lott, D. J., & Vandenborne, K. (2012, May 22).
Participation and quality of life in children with duchenne muscular dystrophy using the international classification of functioning, disability, and health. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3358238/?tool=pubmed

Blake, Derek J., Andrew Weir, Sarah E. Newey, and Kay E. Davis. "Function and
genetics of dystrophin and dystrophin-related proteins in muscle." (2002) Physiological Reviews. Retrieved from http://physrev.physiology.org/content/82/2/291.full

Bowles, D. E., McPhee, S. W. J., Li, C., Gray, S. J., Samulski, J. J., Camp, A. S., Li, J.,
Wang, B., Monahan, P.E., Rabinowitz, J.E., Greiger, J.C., Govindasamy, L., Agbandje-McKenna, M., Xiao, X., & Samulski, R.J. (2012). Phase 1 gene therapy for Duchenne Muscular Dystrophy using a translational optimized AAV vector. Retrieved from http://pm6mt7vg3j.search.serialssolutions.com/OpenURL_local?sid=Entrez:PubMed&id=pmid:22068425

Buyse, G. M., Goemans, N., van den Hauwe, M., Thijs, D., de Groot, I. J. M., Schara, U.,
Ceulemans, B., Meier, T, & Mertens, L. (2011, January 7). Idebenone as a novel, therapeutic approach for duchenne muscular dystrophy: Results from a 12 month, double-blind, randomized placebo-controlled trial. Retrieved from http://pm6mt7vg3j.search.serialssolutions.com/OpenURL_local?sid=Entrez:PubMed&id=pmid:21435876

Cleveland Clinic. (2008, March 25). Retrieved from http://my.clevelandclinic.org/disorders/muscular_dystrophy/hic_muscular_dystrophy.aspx

Duchenne and Becker Muscular Dystrophy - genetics home reference . (2012, February
13). Retrieved from http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy

Duchenne Muscular Dystrophy- genetic testing guide. (2007). Retrieved from

Helderman-van den Enden, AT, K. Madan, AH van der Hout, E. Bakker, CE de Die-
Smulders, and HB Ginjaar. (2012, June 6) An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. European Journal of Human Genetics. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22669413 Jansen, M., de Groot, I. J. M., van Alfen, N., & Geurts, A. C. H. (2010, August 6).
Physical training in boys with duchenne muscular dystrophy: The protocol of the no use in disuse study. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2929216/?tool=pubmed

Kakulas, Byron A. (2008). A brief history of muscular dystrophy research: A personal
perspective. Neurology India. Retrieved from http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2008;volume=56;issue=3;spage=231;epage=235;aulast=Kakulas

Kaneshiro, Neil K., and Daniel B. Hotch. (2010, March 9). Duchenne Muscular
Dystrophy. Retrieved from

Muscular Dystrophy Association. (2009). Facts About Duchenne and Becker Muscular
Dystrophies. Retrieved from http://static.mda.org/publications/PDFs/FA-DMD.pdf

New guideline: Corticosteroids reccomended for Duchenne Muscular Dystrophy. (2005,
Jan 11). Retrieved from http://www.sciencedaily.com/releases/2005/01/050111115101.htm

Pseudohypertrophic muscular dystrophy - definition of pseudohypertrophic muscular
dystrophy. (n.d.). Retrieved from http://medical-dictionary.thefreedictionary.com/pseudohypertrophic+muscular+dystrophy

Singh, S. M., Kongari, N., Cabello-Villegas, J., & Mallela, K. M. G. (2010, May 7).
Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-β aggregates. Retrieved from http://www.pnas.org/content/early/2010/08/05/1008818107.full.pdf

Tissot, R. (n.d.). Mendelian genetics. Retrieved from

Twee, T. D. (2011, August 26). Muscular dystrophy. Retrieved from
http://emedicine.medscape.com/article/1259041-overview How is DMD inherited? DMD is almost always passed from carrier mother to affected son(s).
It is located on the X chromosome, so father cannot pass the gene to his son and a carrier mother has a 50% chance of passing a bad gene to any of her children.
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