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Duchenne Muscular Dystrophy The most severe and most well known type of muscle disease is the duchenne dystrophy This disease strikes children between the age of 2-6 Progressive disease usually confines its victims to wheelchairs by their teenage years This disease is a name for several types of inherited muscular diseases that cause the skeletal muscles to slowly waste away Ironically it often appears that the muscles are enlarged But the enlargement is due to fat deposits The actual muscle fibers waste awayThey are caused by a defect in one or more of the genes that control muscle structure and function Some types are inherited as a dominant gene abnormality while others are inherited as a recessive gene abnormality or x linked recessive gene abnormality In this case in a x linked abnormality the gene is on the x chromosomeThe genetic abnormality is located on a segment of the x chromosome called XP21 This is one of the pairs that determines the persons sex The earliest symptoms are usually double vision drooping eyelids inability to smileslurred speech and difficulting swallowing Diagnosis depends on the distribution of weakness and the patients medical history which characteristically includes episodes of weakness during exertion followed by a relatively rapid recovery The patient may also be given the tensilon test if a drug that increases the strength of neuromuscular transmission improves the patients condition the disease is probaly present Additionally patients may undergo electro-physiologic testing The early manifestations of Duchenne include Toe walking Running with excess limb motion and without much foward movement Frequent falls and difficulty rising from the ground Large hypertrophic calves Unusually straight posture Later in the course of the disease muscle wasting a waddling gait and curved posture also become evidentBut in the muscle disease victims tests reveal elevated levels of muscle enzymes in the blood due to degeneration muscleThis may also be found at birth The best known enzyme test
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