What is it?
Pompe's Disease was first diagnosed to an infant girl by a Dutch doctor named, Johannes C. Pompe in 1932
It is caused by a mutated GAA gene from each parent and the protein created from this gene is called, Acid Alpha-Glucosidase
The chances of having Pompe's Disease are incredibly low. Worldwide, 1 out of every 40,000 people have it and in the US, every
More about it
Pompe's Disease does not reside within only one race, making it pan-ethnic. However, African American, Southern Chinese, and Taiwanese infants are more likely to have the disease than infants of an other ethnicity, and Netherlandic adults are more likely to have the disease than adults of an other ethnicity.
There are different kinds of symptoms of Pompe's Disease. In infants, greatly weakened muscles are experienced as well as rare cases of heart problems, however, in adulthood, a wider variety of symptoms can be found. This includes, leg and hip muscle weakness, difficulty moving, and difficulty breathing
There are several tests that help doctors diagnose their patients. Doctors can confirm the final diagnosis with a blood test.
Research, Treatment, and Cause
Research is focused on enzyme replacement therapy because that is the only known treatment. However, it is not a cure; there is no cure.
Enzyme replacement is undertaken since that targets the main cause of Pompe’s disease.
Pompe’s disease is an autosomal recessive disorder that requires a copy of a mutated GAA gene; one from each parent.
The Prognosis of Pompe's Disease is not usually good, especially if left untreated in infancy. It is also very hard to predict if diagnosed in adulthood, but Pompe's has a uniform to kill.