Advertisement

How is Pompe disease diagnosed?

The diagnosis of Pompe disease can be made through several testing methods. Blood tests can look at how well the GAA enzymes are working, as well as checking for variants in the GAA gene. Other tests, such as an ultrasound of a child's heart (echocardiogram) may be done. This is a painless procedure that looks at how well the child's heart is working.

Diagnosing Pompe disease can be hard, especially when there is no family history of the disease. Pompe disease is rare and has symptoms similar to other conditions. But once the doctors suspect that it might be Pompe disease, the diagnosis can be made.

Continue Learning about Autosomal Recessive Genetic Disorders

What are the symptoms of autosomal recessive genetic disorders?
Honor Society of Nursing (STTI)Honor Society of Nursing (STTI)
Because there are so many different autosomal recessive genetic disorders, they can have a variety o...
More Answers
How do I manage my autosomal recessive genetic disorders on a daily basis?
Honor Society of Nursing (STTI)Honor Society of Nursing (STTI)
Managing your autosomal recessive genetic disorders on a daily basis depends on the kind of disorder...
More Answers
What causes congenital lactose intolerance?
Honor Society of Nursing (STTI)Honor Society of Nursing (STTI)
Congenital lactose intolerance is a rare disorder in which infants are unable to break down lactose,...
More Answers
What are the treatment options for autosomal recessive genetic disorders?
Honor Society of Nursing (STTI)Honor Society of Nursing (STTI)
Because there are many different kinds of autosomal recessive genetic disorders, there are also many...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.