This document was originally created in Power Point Presentation, so page markers will be displayed.
It was created to meet the following criteria-
1)Name of genetic disorder
2)Who discovered of first researched this disorder
3)History of disorder(Initial research,misconceptions,etc.)
5)Picture of someone with disorder
6)Pedigree of disorder
8)Genetic information(Chromosome and gene)
9)Pertinent data(Minimum of 5 fun facts, anything else)
11)Minimum of 30 slides-
All pictures can be found on the websites located on the reference slide.
Duchenne Muscular Dystrophy (DMD)(Include picture of someone with disorder here)
Chromosome and Gene Information
DMD is located on the 23rd chromosome and is an X linked recessive disorder.(Include picture of the 23 chromosomes here, point out the 23rd)
Since DMD is X linked recessive, a man can't pass it on to his son, but he will pass it on to his daughter. A carrier woman has a 25% chance of having an affected son or a carrier daughter.(Include
picture of pedigree here)
Males with DMD usually pass away by their early 20s. A smaller percent doesn't even make it to their late teens, and even less make it to their 30s. At an average age of 9, DMD is accompanied with occasional use of a wheelchair, and total reliance usually follows by early teens.
Discovery and Research
French neurologist, Dr. Guillaume-Benjamin-Amand Duchenne, was not the first to describe this form of muscular dystrophy, but he was the first to study the diseased muscles microscopically.
To do this, he invented a tool that removed small portions of tissue located inside the body.
By developing this tool, called Duchenne's trocar, he founded the diagnostic practice of biopsy. After this, he created a complete account of the clinical features and progression of DMD.(Include picture of...