Monday, March 14, 2011

All information was received from...

/, Area. "Genetic Counseling." Oak Ridge National Laboratory. Web. 14 Mar. 2011. <http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genecounseling.shtml#1>.
"Duchenne and Becker Muscular Dystrophy - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 14 Mar. 2011. <http://www.ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy>.
"Duchenne Muscular Dystrophy - Symptoms, Diagnosis, Treatment of Duchenne Muscular Dystrophy - NY Times Health Information." Health News - The New York Times. Web. 14 Mar. 2011. <http://health.nytimes.com/health/guides/disease/duchenne-muscular-dystrophy/overview.html>.
"Duchenne Muscular Dystrophy: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. Web. 14 Mar. 2011. <http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm>.
"Living with a Genetic Disorder - Duchenne Muscular Dystrophy (DMD) - The GEEE! in GENOME." Canadian Museum of Nature - Musée Canadien De La Nature. Web. 14 Mar. 2011. <http://nature.ca/genome/03/d/10/03d_14b_e.cfm>.
"Muscular Dystrophy Diagnosis & Treatment." WebMD - Better Information. Better Health. Web. 14 Mar. 2011. <http://www.webmd.com/parenting/understanding-muscular-dystrophy-treatment>.
"Muscular Dystrophy." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 14 Mar. 2011. <http://kidshealth.org/teen/diseases_conditions/bones/muscular_dystrophy.html>.
ScherYes, Hagar. "Muscular Dystrophy Symptoms for Duchenne, Becker, & Myotonic Types." WebMD - Better Information. Better Health. Web. 14 Mar. 2011. <http://www.webmd.com/parenting/understanding-muscular-dystrophy-symptoms>.

Sunday, March 13, 2011

How possible is it that a cure will be found?

Cures are possible. Scientists have found a drug that cures Duchenne Muscular Dystorphy in mice. This shows hope that it can also happen to people. The drug has been studied to be safe and effective. Lee Sweeny, chairman of physiology at the University of Pennsylvania School of Medicine, says, "In addition to Duchenne Muscular Dystrophy — a prevalent, rapidly worsening form of the disorder — the drug has the potential to cure a host of genetic diseases caused by the same mutation."

What are some organizations that can help a family cope with a child's disorder?

Some orginizations for Duchenne Muscular Dystrophy mainly include: DMD Fund (http://www.dmdfund.org/), The Muscular Dystrophy Association (http://www.disaboom.com/organizations/4298), and the Muscular Dystropy Campaign (http://www.disaboom.com/organizations/4400).

What limitations does the person have?

Duchenne Muscular Dystrophy prevents most physical activity. They won't be able to walk, play sports, or basically do anything involving their body. People diagnosed with it must use a wheelchair to get around in life.

What is everyday life like? What is the quality of life?

It's hard having to deal with disease as there is no cure for it. Johnathan, a young boy suffering with Duchenne Muscular Dystrophy, takes Deflazacort, a steroid based medication to help his weak muscle strength. He also takes many pills such as vitamin D and calcium to keep his bones strong. His family must have a house that supports his problem, so they put elevators in the house. They must make sure the school he goes to can support his disease. He gets around by using his wheelchair.

Saturday, March 12, 2011

How can the disease be treated?

Sadly, there is no cure for Duchenne Muscular Dystrophy. Things that may help, though, is activity. Inactivity can worsen the disease. It's also been proven that the supplement creatine may help with strengthening the muscles.

What is the life expectancy of someone with the disease?

Because the effects are beginning before the age of 6, most people with the disease die in their late teens or early adulthood. Symptoms can already be seen around the first years of their life. Braces are needed to help walk around the age of 10 and by the age of 12, they're life's on a wheelchair.

What are the physical symptoms of the disease?

The symptom of Duchenne Muscular Dystrophy is mainly muscle weakness. Muscle weakness leads to frequent falling, clumsiness, hard to get up, and bad motor skills (jogging, sitting, jumping). Also, fatigue and mental retardation is commmon. Most people affected with it end up in a wheelchair by 12 years old due to weakness in legs and pelvis. Even though it's not as severe as the legs and pelvis, arms, neck, and other body parts are affected. All symptoms should be noticeable before the age of 6 years old and younger.

How is the disease diagnosed?

Musclar Dystrophy is diagnosed through DNA testing, a muscle biopsy, electromyography or nerve conduction tests, genetic testing, or blood enzyme tests. In a muscle biopsy, people can find out if they have the disease or not by checking to see if dystrophin protein is rather missing or abnormal.

What are the chances of a person with this disease passing the disease to their offspring?

As said in the in the genotype post, in order for a male to receive the disease, the trait has come from the mom. It's impossible for the just father to pass down the trait to his son. Now he can pass it to his daughter. If a mother is carrier of the disease, meaning she is affected on one chromosome, and the father is normal, it's a 50%  chance that the their son will inherit the disease. Their daughter has a 50%  chance of carrying the trait, but not actually having it. Now if the dad has the disease and the mom is a carrier, it's a 100% the the daughter will inherit the trait; 50% that she'll be a carrier and 50% acquire the disease. As for the son, he, again, has a 50% chance of having the disease. If both parents have full blown Muscular Dystrophy (their both affected, not carriers), then it's a 100% chance that both the boy and girl will have the disease.

How prevalent is the disease in the population?

In the United States, 1 out of every 3500 to 5000 newborn boys will be affected with the disease. Around 400 to 600 boys every year, in the U.S., will be affected with Musclar Dystrophy. Females born with Muscular Dystrophy are extremely rare, nearly impossible.

What are the possible genotypes of the parents?

Muscular Dystrophy is caused by an X-Linked recessive pattern. In order for a male to receive the disease, the trait has come from the mom. It's impossible for the just father to pass down the trait to his son. Now he can pass it to his daughter. If a mother is carrier of the disease, meaning she is affected on one chromosome, and the father is normal, it's a 50%  chance that the their son will inherit the disease. Their daughter has a 50%  chance of carrying the trait, but not actually having it. Now if the dad has the disease and the mom is a carrier, it's a 100% the the daughter will inherit the trait; 50% that she'll be a carrier and 50% acquire the disease. As for the son, he, again, has a 50% chance of having the disease. If both parents have full blown Muscular Dystrophy (their both affected, not carriers), then it's a 100% chance that both the boy and girl will have the disease.

So, how does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

Muscular Dystrophy is inherited by an X-Linked recessive pattern. This disease is more common among males than of females. You may ask why? In an X-Linked disease, the disease only affects the "X" chromosome. Males only have one "X" chromosome meaning that if it's passed down to the "X" chromosome, it's a 100% chance that it will lead to the disease. In females, though, there are two "X" chromosomes in the gene. So in order for a female to get the disease, the trait would have to affect both "X" chromosomes for the female to actually inherit the trait.  If a female is affected with the trait on just one "X," she can pass the trait on to her kids. Females who carry the trait but don't have the disease are known as carriers.

What's a Genetic Counselor?

A genetic counselor is a health professional who finds information of families whom might have possible birth defects or genetic disorders to people who may be at risk of aquiring the disease/disorder. In order to become one, you must hold a Master's degree from an accredited U.S. graduate program. To be certified, you must successfully pass clinical training and have certification. Lastly, you must pass the American Board of Genetic's Counselor examination. Average salary of a genetic counselor is about 61,000 dollars (as of 2006).