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?
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In an autosomal recessive condition there is a mutation in both copies of a gene (the basic unit...
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Is there a cure for autosomal recessive genetic disorders?
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How is Pompe disease diagnosed?
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The diagnosis of Pompe disease can be made through several testing methods. Blood tests can look at ...
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