Tuesday, February 25, 2014

Interesting facts about Duchenne Muscular Dystrophy...

  • There is no known cure, though steroid drugs can slow the loss of muscle strength, and assisted ventilation drugs can help heart function
  • 35% of all DMD cases are the result of a new random spontaneous genetic mutation
  • Affects all races and cultures
  • In 1986 the gene that causes DMD was identified
  • Most common lethal genetic disorder diagnosed during childhood
  • DMD worsens more rapidly than other types of Muscular Dystrophy and is considered the harshest form of the disease more than not.
Please recognize the hardships that families go through when their children have such a depressing disorder. Don't just be sad and move on. Make a change, donate money and help find cures to disorders such as DMD and other horrible diseases/disorders. Please keep in mind, you CAN help.

Monday, February 24, 2014



Did you know that only males can actually express the full effects of Duchenne Muscular Dystrophy? This disorder is a sex linked trait that is carried on the X chromosome. Why don’t girls usually get DMD? When a girl inherits a flawed dystrophin gene from one parent, she usually also gets a healthy dystrophin gene from her other parent, giving her enough of the protein to protect her from the disease. Males who inherit the mutation get the disease because they have no second dystrophin gene to make up for the faulty one. Men can't pass on the gene, as if they reproduce they have a healthy X chromosome therefore not passing it on. Women can inherit the disorder on one chromosome and not express it, but may pass the disorder on to her child. Below is a diagram of a typical family with Duchenne Muscular Dystrophy running in their genes.
X-linked recessive pattern of inheritance

Sunday, February 23, 2014

The first historical acoount of this disorder was in 1836, by Guillame Duchenne, who gave a comprehensive account of 13 patients with the disorder, which he called "paralysie musculaire psuedo-hypertrophique". He described the patients with the disorder as having an awkward manner of walking, frequent falls, fatigue,difficulty with motor skills, progressive difficulty in walking, muscle fiber deformities, enlarging of tongue and calf muscles, and skeletal deformities.
Typical posture and muscle weakness will appear as shown in the diagram



Check out one of these articles to get more info on DMD

http://www.patient.co.uk/health/duchenne-muscular-dystrophy-leaflet

http://brain.oxfordjournals.org/content/125/1/4

http://www.jaaos.org/content/10/2/138.abstract

Tuesday, February 18, 2014

Not many "famous" people have DMD, due to an early death, usually at or under the age of 30. However, Alfredo Ferrari, was the son of Enzo Ferrari. He designed the 1.5 L DOHC V6 engine for F2 at the end of 1955. He was born with DMD and lived to the age of 24. He died before seeing the engine put to use in the car. A picture of Alfredo is to the right.



For more information about Duchenne Muscular Dystrophy, check out one of these links!

http://mda.org/disease/duchenne-muscular-dystrophy

http://duchennemd.org/

http://www.parentprojectmd.org/site/PageServer?pagename=nws_index

Thursday, February 13, 2014

Duchenne Muscular Dystrophy is a recessive disorder inherited from the mother's X chromosomes. Approximately 1 in every 3,600 boys is affected by DMD, Approximately .03% of the world's population. This disorder is characterized as a severe form of muscular dystrophy caused by a genetic defect which usually affects boys. Basically, the disease is progressive weakening and wasting of the muscles.This occurs rapidly, as most patients diagnosed with DMD die by the age of 30.

Here is a link to a YouTube video explaining the disease more in depth:

http://www.youtube.com/watch?v=AF4D4TyE9NM