• external image jonprom.jpgDuchenne Muscular Dystrophy:
Duchenne Muscular Dystrophy (DMD) is an epidemic that plagues the lives of hopeful parents. One in every 150 children is born with it, and only 20 out of every 1,000 survive to adulthood. That being said, the average lifespan of a person with DMD is only about 20 years, greatly reducing the child's lifespan. Many children who are discovered to have this tragic disease are simply terminated at birth to avoid the hassle and eventual grief that is caused by such a child should it even survive. The picture on the right is Jonathan Jiminez, a victim of this disorder. He was about 26 years old at the time of the picture, alread past the average lifespan of a person with this disorder. He is one of the few who have coped with the disease, and certainly one of the more prosperous of them. Another victim of this disease is Stephen Hawking. He bears the qualities of both Duchenne and Neuro Muscular Dystrophy (the difference between the two described below) that when coupled together effectivelyparalzing his mouth and his body, leaving only his left hand unaffected by the ravages of Muscular Dystrophy. He, among all, is a truely amazing story. To learn more about Stephen Hawking, follow this link http://www.google.com/url?sa=t&rct=j&q=st%20ephen%20hawking&source=web&cd=1&ved=0CCoQFjAA&url=http%3A%2F%2Fen.wikipedia.org%2Fwiki%2FStephen_Hawking&ei=3ERNT-6JDsKniAKM2qyqDw&usg=AFQjCNGvBhDlmPYH5iA2CRpNB0Cw83x6LQ

external image x-linked-recessive-genetic-defects.jpg
How it is Inherited: The mutation itself is caused by a malfunction in the replication of a gene in the embryo via the mitosis process. It is a sex-linked gene and as such is only present on the information superior X-chromosome. For example: a mother who is a carrier for this mutation has the genotype of X(R)X(r), and has a child with a normal male (with the genotype of X(r)Y), a male child will have a 50% chance of being affected by the bad gene, and a 50% chance of not being affected. Alternatively, a female child will have a 50% chance of being a carrier, and a 50% chance of being unaffected. The female carriers themselves are not completely unaffected by the gene, showing milder signs of muscle weakness reminiscent of the manifestation of the gene. As a sex-linked mutation, men are much more likely to receive the mutation because of the susceptibility of the Y-chromosome.

Signs and Symptoms:

There are many ways to identify this mutation. Among these are:
  • Mental retardation that doesn't degenerate over timeexternal image images?q=tbn:ANd9GcQ6dQ_pzhTHyxEM6YPbqztOkcCScIvPyChEmBLq_VbqatQHIqLr3A
  • Frequent and unpreventable tripping and falling.
  • Severe and persistent fatigue and drowsiness.
  • Muscle weakness in the pelvis and legs, with less severe weakness in the arms and neck.
  • The subject walks on his/her toes at all times, demonstrating a waddle-type stride.
  • Demonstrates weak stomach muscles which results in constant vomiting
Appearance
  • Shoulders and back arched backwards while walking
  • The stomach is distended, even while at rest.
  • Legs have an excess of fat.
  • Heel skin is stretched over the ankle bone, revealing it.
  • Weak butt

Treatments

As of right now there is no known cure for this disease,
but there are treatments to help alleviate the pain of the victim, some are as follows:
  • There are multiple devices that can help:
    • Braces
    • Crutchesexternal image images?q=tbn:ANd9GcTtwCVRJGgDaRJd0sD8QPQLk7I0G-3OgFFcH6UM9dJ_lJmd8CmyMg
    • Walkers
    • Wheelchairs
  • Genetic counseling
  • There are a couple of medicines that may also be able to help
    • Steroids
    • Pain medicine
  • Rehabilitation Therapy
  • Physical therapy
  • Exercise
  • Occupational therapy
    • Work
    • Self- care
    • Activities
    • Being active, not just sitting around

  • Surgery
    • Can treat complications
      • Contractual
        • Shortened muscles

Interesting Facts

  • Stephen Hawking has it
  • One in 150 kids have it
  • Only 20% of those kids live more than a year
  • Only 11% of that 20% survive past age 20
  • There are no known cases of age past 50
  • The oldest known survivor is 47
  • First discovered in 1947
  • Since it was discovered there have been only 326,896 cases, which is good considering it has been around for 60 years.

Support Groups

http://www.parentprojectmd.org/site/PageServer?pagename=nws_index
http://www.mdjunction.com/duchenne-muscular-dystrophy

Works Cited

<http://www.webmd.com/parenting/understanding-muscular-dystrophy-basics>.
  • Pedigree. N.d. Biology Reference. Web. 28 Feb. 2012.
  • Punnet Square. N.d. allrefer.com. Web. 27 Feb. 2012.
  • Wheel Chairs.New York. Jonathan's Story.com. Web. 24 Feb. 2012
  • "Who Is Stephen Hawking? | Muscular Dystrophy." Muscular Dystrophy. N.p., n.d. Web. 24 Feb. 2012. <http://muscular-dystrophy.co/muscular_dystrophy_articles/who-is-stephen-hawking/>.
  • Wynbrandt, James, and Mark D. Ludman. The encyclopedia of genetic disorders and birth defects. 2nd ed. New York, NY: Facts on File, 2000. Print.