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Pompe Disease Treatment

Updated on January 24, 2010

 Pompe Disease has been documented for decades, until recently many of Pompe’s victims suffered without knowing why. The neuromuscular ailment isdiagnosed as a form of muscular dystrophy.Specialists estimate that only one out of 30,000 people develop Pompe and treatment is so elusive. The current Pompe disease treatment for Type II GSD is enzyme replacement therapy (ERT) and also others like Myozyme. Talk to a medical care provider for more details.

Pompe disease or the lack of an enzyme called acid maltase, Glycogen (a complex sugar) builds up in the body's cells and causes damage in the body. The body has a problem breaking down complex sugars into easily digestible sugar. The cause of this is a defect in an enzyme known as acid alpha glucosidase (GAA). Glycogen piles up and disrupts the normal functions of the lysosome. Overabundance of glycogen accumulates in the heart and other muscles of the body. The growing deposits force the lysosomes to continually enlarge. Eventually, they break down. This impairs the function of the organs, especially muscles, in which they are accumulated. Pompe disease affects an estimated 1 in every 40,000 to 300,000 newborns, and is caused by a defective gene in both parents, though neither parent may be affected by the disease.

While Myozyme is in use for children with Pompe disease, the manufacturer and the Food and Drug Administration are still in negotiations for approval on the adult larger-dosage. Pompe is a rare and often fatal genetic disease caused by an enzyme deficiency that creates muscle weakness throughout the body.

Pompe disease is similar to other neuromuscluar disease as is will require many lifestyle changes for the person affected and their family. Although there are many ways to make getting around and preforming daily activities there will also be mental strain for everyone involved. Find out support groups in your area. The clinical trials have focused on the most devastating form of Pompe disease. They are also looking into gene replacement as a form of treatment or cure for Pompe disease.


Pompe Disease Treatment options

 The current treatment for Type II GSD is enzyme replacement therapy (ERT). The goal is to replace the defective acid alpha glucosidase enzyme in Pompe patients, who either lack a sufficient supply or can't manufacture any of it. Medical personnel administer Enzyme Replacement Therapy through IV. Patients with Pompe disease usually interact with doctors in a variety of medical specialties. Among the Pompe disease treatment consultants are cardiology, genetics, neurology, pulmonology and respiratory therapy, intensive care, physical therapy, occupational therapy and nutrition. Many patients find a high-protein diet to be helpful, along with a regular exercise program.

Inspirational interview about Pompe Disease


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