Duchenne Muscular Dystrophy Erin Kim
What is Duchenne Muscular Dystrophy? • Duchenne Muscular Dystrophy (DMD) is a type of muscular dystrophy is a recessive genetic disorder causing the fast deterioration of muscles.
Symptoms • symptoms usually start to become visible to the naked eye from infancy to around five years old. • When they do start to walk, they walk in a weird way, only walking on the balls of their feet • This is because they have increased calf muscles. However this muscle is very soon replaced by fatty tissue.
DATA: IQ • Another symptom of DMD is a slight mental retardation such as dyslexia, or learning disabilities.
Inheritance • The Dystrophin gene is a gene located on the X chromosome (sex-linked disease) • Females are rarely affected (X- inactivation) • 30% of dystrophin mutations occur spontaneously
Tests • electromyopathy test – insertion of needle, recording of electricity. (When muscles contract and release, there is usually an electric current flowing through the tissue) • “Serum CreatineKinase Test” looks for a build up of kinase in the bloodstream • muscle biopsy- Here a piece of muscle is removed and examined. If the cells are big and filled with fatty tissue then that means that person has DMD electromyopathy test
Primary Cause/ Life Span • DMD is caused by the lack of Dystrophin, (a protein) in the cell membrane of muscles • People with DMD usually die by 20 years of age because their heart and diaphragm have deteriorated.
Cure? Support groups? • Currently there is no cure for DMD, but many studies are being done to try and find cures. • Many DMD patients go to physical therapy to keep their muscles in the best condition they can • The Muscular Dystrophy Association (MDA) is a large support group that helps people with muscular disorders
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