Pompe disease can affect both children and adults, and cause symptoms that range from slow growth and poor reflexes to heart and liver problems. Caring for patients with Pompe disease can be challenging and cause stress, so here are some tips if you are a caregiver to help…
Rare genetic diseases such as Pompe disease are difficult to deal with, not only for the patient, but also for caregivers. Here are some tips to ensure you are able to give the best possible care to a person with Pompe disease. Be conscious of your own health Your…
Rare genetic diseases such as Pompe disease pose a challenge in effectively communicating your concerns to the doctor. Here are some tips to make the most of your doctor’s visit. Make sure you consult the right doctor Pompe disease is a rare genetic disorder, so not all doctors are…
Pompe disease is a rare genetic disorder caused by mutations in the GAA gene. It is characterized by the buildup of glycogen, a complex sugar molecule, in cells and tissues due to the absence or improper functioning of an enzyme called acid alpha-glucosidase. Changes to diet and…
Information about rare genetic disorders such as Pompe disease can be hard to find, complicating life for both patients and caregivers. This article offers an easy reference to some of the most commonly asked questions about Pompe disease. What is Pompe disease? Pompe disease is a rare and progressive genetic…
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