A skin biopsy is one of the tests that doctors can use to help diagnose Pompe disease,…
Articles by Emily Malcolm, PhD
Spirometry is a common medical test that you can take at your local hospital or clinic to evaluate how…
Electromyography (EMG) is a medical test that doctors can use to assess the health of muscles and nerves, how…
Pompe disease is a rare disease in which glycogen, a complex sugar molecule, builds up in cells and…
One test that doctors use to diagnose Pompe disease, a rare genetic disease caused by mutations in the …
If you are at risk of transmitting Pompe disease to your children, you may be thinking about your…
If you are a carrier of Pompe disease, you may be wondering about the risks of passing the…
Genetic testing looks for changes in genes and chromosomes that might indicate you have a genetic disease such as…
Pompe disease is a rare disorder caused by mutations in a gene called GAA, which provides…
Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms. If you or your…