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Duchenne Muscular Dystrophy Essay

1139 words - 5 pages

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 disorder2)Who discovered of first researched this disorder3)History of disorder(Initial research,misconceptions,etc.)4)Characteristics5)Picture of someone with disorder6)Pedigree of disorder7)Treatment8)Genetic information(Chromosome and gene)9)Pertinent data(Minimum of 5 fun facts, anything else)10)Reference Slide11)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)-----Pedigree-----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 Dr. Duchenne here)-----Symptoms and Causes-----Muscle WeaknessFrequent falls, difficulty with jumping & runningProgressive Difficulty to WalkSkeletal DeformitiesChest and back (Scoliosis)Pneumonia and other Respiratory InfectionsMuscle DeformitiesContractures- Permanent tightening of muscle, tendons, ligaments, or skin that prevents normal movement in the affected areaFatigueIntellectual Retardation (Unprogressing)-----Symptoms will appear before the age of 6 and can show up as early as infancy, but usually can't be diagnosed until about 3 years of age.Muscle weakness rapidly progresses in the legs and pelvis along with loss of muscle mass.Weakness also appears in the upper body but not as severely as the lower.Calf muscles enlarge, but later turn into fat and connective tissue. (Pseudohypertrophy)-----Muscle contractures occur and cause abnormal bone growth (Scoliosis)Around the age of 10, braces might be used for walking, followed by wheelchair use in the early teens.Muscular weakness and skeletal deformities are big factors in frequent breathing disorders. Cardiomyopathy, or inefficient...

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