Pompe Disease By Jayne Simon

What is Pompe Disease? Pompe Disease is very uncommon. It is a neuromuscular disorder that is genetically passed down. It is caused by an enzyme deficiency leading to a buildup of glycogen in the muscles, causing the muscles to progressively weaken. Pompe Disease is present in people of every age.

What is the gene that the mutation occurs in to cause this disease? GAA is the gene that the mutation occurs in to cause Pompe Disease.

What protein is produced by the GAA gene? The protein produced by GAA gene is acid alpha-glucosidase (also known as acid maltase).

How and when was Pompe Disease first discovered? Pompe Disease was first discovered by a Dutch doctor named after Johannes C. Pompe. He identified this disorder in 1932, an infant patient of his.

Johannes C. Pompe

What is the incidence rate of Pompe Disease in the US? In the world? In the US, it is approximately 1 in 40,000 or 6,800 people total in the nation itself. In the world, the estimate of people with Pompe Disease is about 5,000 to 10,000.

Are any specific populations of people affected more than others? For infants, Pompe disease is more common in African-Americans and people from southern China and Taiwan. As for adults, the disease is most common for people living in the netherlands

What are the symptoms of Pompe Disease? In infants, they will typically have weak muscles and look floppy at times, also difficulties in breathing, and problems developing as a normal child would such as rolling over or crawling

How is Pompe Disease diagnosed? It is very important to diagnose early because the disorder worsens over time. First the doctors use several tests to inspect the symptoms to remove the possibility of other disorders. Then once suspected, a series of blood tests can be given to properly identify pompe disease

How is Pompe Disease treated? There is no cure for Pompe Disease. Enzyme replacement therapy (ERT) can help which is meant to replace the non-working acid alpha-glucosidase (GAA) enzyme.

What is the prognosis for a patient diagnosed with Pompe Disease? If an infant is diagnosed with Pompe Disease and not treated, they will die from a respiratory infection or cardiac failure before the age of 1 or 2. The older the person is with diagnosed Pompe disease, the slower the progression of the disease.

What is the genetic pattern of inheritance for Pompe Disease? When both of the parents pass down a genetically mutated GAA gene, it can be inherited.

What current research is being conducted on Pompe Disease or its treatments? Current research is focusing on both improving the enzyme replacement therapy along with going about new ways for curing, such as gene therapy. By gene therapy, there could be a way to insert the GAA gene that is not mutated into the patient's body. This type of treatments is still in the very early stages of investigation so human testing has not started.

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