Duchenne Muscular Dystrophy Essay

1723 words - 7 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. If you're lazy and just want to copy my completed presentation, just click the attached file.Duchenne Muscular Dystrophy ...view middle of the document...

(Include picture of Dr. Duchenne here)-----Symptoms and Causes-----Muscle Weakness Frequent falls, difficulty with jumping & runningProgressive Difficulty to WalkSkeletal Deformities Chest and back (Scoliosis)Pneumonia and other Respiratory InfectionsMuscle Deformities Contractures- 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 pumping of the heart, is usually always present.Intellectual impairment can appear as well, though it doesn't progress with DMD.-----DMD is the most common of over 20 muscular dystrophies.About 1 in 3,500 boys are born affected.Each ethnic group is affected by it equally.A CPK assay (A type of test) can detect severe muscle damage. If found, a DNA test or muscle biopsy can be performed to show what the cause is (Possibly DMD). They can also detect carriers.-----Characteristics-----Inside the Dystrophin gene, many 'chunks' called exons carry the instructions for producing important muscle proteins (Dystrophin).In order to properly construct the proteins, the exons must be read in order from start to finish.About 75% of boys with DMD are missing one of the exons.-----Besides removing some of the instructions for making the protein, the missing exon messes up the code and stops further reading of the gene.This is because the remaining genetic code is shifted to fill the open space.-----By shifting, the code becomes out of order, and forms the letters T-A-G, which is the stop signal for the gene production.When the Dystrophin 'production machinery' reads the instructions, the stop signal halts the machine at mid-sequence, causing the rest of the exons to be ignored.-----Only a shortened version of the Dystrophin protein is formed, so the cell recognizes the protein isn't built right and destroys it.-----In other cases (25%) all exons are present but smaller changes, like a 1 letter difference in the code, make the stop signal appear later in the gene sequence.-----Without Dystrophin, individual muscle cells die and proteins in the cell membrane and other parts of the cell are lost.For unknown reasons, these changes weaken the cell membrane and cause it to rupture very easily.-----When the membrane ruptures, outside...

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