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Friday, 1 March 2013

Pompe Disease

Pompe disease is a r atomic number 18 neuromuscular genetic disoblige than notify happen in infants, children and adults that acquire a forged gene from their parents. It is a disorder that consists of glycogen in the remainss cells. Glycogen is in certain organs and tissues alike mainly within the muscles, this makes it harder to function normally.
In addition, Pompe disease is caused by a deficiency or complete lack of enzyme called glycosidase alpha acid. If this enzyme doesnt work properly, glycogen builds up in the consistencys cells and may cause damage, to the muscles. This cigaret be smell threatening when the breathing can be impaired or even the meat muscles are affected. In the Untied States only if there are about 1 in 40,000 pot that are affected with this disease everyday.
For instance, there are two forms of Pompe disease that both feed common symptoms of muscle weakness. First, immature form usually appears within the first few months of sustenance. Infants are weak and have trouble holding there heads up. Their heart muscle is also weakening by the disease. They even may die of heart failure. Second, Late-onset form the disease progresses more slow than the infantile form, nut individuals still have a shorter life span the others. Symptoms such as difficulty walking or climbing stairs begin and progress slowly over the years.

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They either have to be in a wheelchair or confined to bed and may even have to have a respirator to breathe.
However, the muscle weakness can be affecting many different parts of the body and can cause a variety of health problems. In other cases, the initial impact may be very near and may progressively get worse than it was before. While in others it will become less extreme and just take on more steadily. Whether the disease progressed fast or slowly, eventually style and breathing difficulties worsen over time.
Meanwhile, the diagnosis of Pompe disease can be a complicated process it often involves some(prenominal) different...If you want to get a full essay, order it on our website: Ordercustompaper.com



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