Advertisement

What are the different types of Pompe Disease?

The two main types of Pompe disease are infantile-onset and late-onset. Infantile-onset Pompe disease is the most severe form, and those affected have little to no detectable enzyme activity. Those with late-onset Pompe disease have low functioning enzymes, which means that the condition progresses at a slower rate. Late-onset Pompe disease can present in infants, children and teenagers. The main difference between the two types of the disease is that infantile-onset causes an enlarged heart. Signs and symptoms of infantile-onset Pompe disease are present at birth or appear in the first few weeks of life.

Continue Learning about Autosomal Recessive Genetic Disorders

What is the chance of having a child with an autosomal recessive condition?
Brigham and Women's HospitalBrigham and Women's Hospital
In an autosomal recessive condition there is a mutation in both copies of a gene (the basic unit...
More Answers
Is there a cure for autosomal recessive genetic disorders?
Honor Society of Nursing (STTI)Honor Society of Nursing (STTI)
Most autosomal recessive genetic disorders do not have a cure. However, some autosomal recessive gen...
More Answers
How is Pompe disease diagnosed?
Jumo HealthJumo Health
The diagnosis of Pompe disease can be made through several testing methods. Blood tests can look at ...
More Answers
How does congenital adrenal hyperplasia (CAH) affect the adrenal glands?
Jumo HealthJumo Health
Congenital adrenal hyperplasia (CAH) causes the adrenal glands to be bigger than usual. In CAH, the ...
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.