7252876-Duchenne-Muscular-Dystrophy - 1. What is Duchenne...

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1. What is Duchenne Muscular Dystrophy? Muscular dystrophy (MD) is a group of inherited muscle diseases in which muscle fibers are unusually susceptible to damage. Muscles, primarily voluntary muscles, become progressively weaker. In the late stages of muscular dystrophy, fat and connective tissue often replace muscle fibers. Some types of muscular dystrophy affect heart muscles, other involuntary muscles and other organs. There's no cure for muscular dystrophy, but medications and therapy can slow the course of the disease. Signs and symptoms Signs and symptoms vary according to the type of muscular dystrophy. In general, muscular dystrophy symptoms may include: Muscle weakness Apparent lack of coordination Progressive crippling, resulting in fixations (contractures) of the muscles around your joints and loss of mobility Duchenne's muscular dystrophy is the most severe form of dystrophinopathy. It occurs mostly in young boys and is the most common form of MD that affects children. Signs and symptoms of Duchenne's MD may include: Frequent falls Large calf muscles Difficulty getting up from a lying or sitting position Weakness in lower leg muscles, resulting in difficulty running and jumping Waddling gait Mild mental retardation, in some cases Signs and symptoms of Duchenne's usually appear between the ages of 2 and 6. It first affects the muscles of the pelvis, upper arms and upper legs. By late childhood, most children with this form of muscular dystrophy are unable to walk. Most die by their late teens or early 20s, often from pneumonia, respiratory muscle weakness or cardiac complications. Some people with Duchenne's MD may exhibit curvature of their spine (scoliosis). 2. Provide an explanation for the symptoms experienced by this patient. Give the significance of the elevated Creatinine Kinase levels. 3. Discuss how mutation in the dystrophin gene can lead to the development symptoms characteristic of DMD. Muscular dystrophy is a general term for a group of inherited diseases involving a defective gene. Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. The most common types of muscular dystrophy appear to be due to a genetic deficiency of the muscle protein dystrophin.
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Inheriting Duchenne's or Becker's MD Duchenne's and Becker's muscular dystrophies are passed from mother to son through one of the mother's genes in a pattern called X-linked recessive inheritance. Boys inherit an X chromosome from their mothers and a Y chromosome from their fathers. The X-Y combination makes them male. Girls inherit two X chromosomes, one from their mothers and one from their fathers. The X-X combination determines that they are female. The defective gene that causes Duchenne's and Becker's muscular dystrophies is
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This note was uploaded on 05/16/2011 for the course NURSING 112 taught by Professor Brinley during the Spring '11 term at Pace.

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7252876-Duchenne-Muscular-Dystrophy - 1. What is Duchenne...

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