Pompe disease education for you
What is Pompe disease?
Pompe disease is a rare genetic condition that runs in families. Also known as acid maltase deficiency, it is a debilitating and often life-threatening neuromuscular disorder. Pompe disease is classified by two types, which differ in severity: infantile onset (IOPD) and late onset (LOPD).
Like all LSDs, Pompe disease is chronic and progressive, meaning it can get worse over time. Symptoms often go unrecognized and misdiagnosed; however, the earlier Pompe disease is diagnosed, the sooner it can be appropriately managed.
If you think you or a family member may have Pompe disease, talk to a doctor about possible next steps such as getting tested.
What causes Pompe disease?
Pompe disease is caused by changes in the GAA gene. This gene produces an enzyme called acid alpha-glucosidase or GAA. Alterations in the GAA gene result in reduced GAA production.
GAA is responsible for breaking down a type of sugar called glycogen. Reduced GAA can result in a buildup of glycogen, which can cause muscle weakness and organ dysfunction.
What are common Pompe disease symptoms?
Pompe disease symptoms and the age at which they present can vary from person to person. Infantile-onset Pompe disease tends to present similarly among infants and within the first year of life. Late-onset Pompe disease can present extremely variably among children and adults and symptoms can present at any age. Common symptoms can include:
- Difficulty breathing, respiratory complications
- Difficulty moving/walking
- Difficulty chewing/jaw fatigue
- Muscle weakness (severe and progressive)
- Low muscle tone or hypotonia
- Gastrointestinal complications/discomfort such as constipation, diarrhea
- Hearing loss
- Enlarged heart (typically seen in IOPD)*
- Developmental delay
^ These are not all possible symptoms, nor do all patients have all the listed symptoms.
*Heart involvement in LOPD is not as common and when present may involve rhythm problems.
Who does Pompe disease affect?
Pompe disease can affect males and females. Infantile-onset Pompe disease affects infants within the first year of life. Late-onset Pompe diseasecan present at any age from infancy to adulthood. The estimated occurrence of Pompe disease is 1 in 40,000.
How is Pompe disease inherited?
Pompe disease is an autosomal recessive condition, meaning a person has to have two copies of the disease causing GAA gene to have Pompe disease. Children inherit two copies of each gene from their biological parents (one copy from the mother, one copy from the father).
A person who has a single copy of the changed GAA gene is called a carrier. They do not have the Pompe or experience symptoms.
When both parents are carriers, with each birth there is a 25% chance that their child will have Pompe disease; 25% chance that their child will not have Pompe disease or carry the changed GAA gene; and 50% chance that their child will be a carrier of Pompe without having the condition.
Sign up for personalized support
At CareConnect, we offer personalized support and resources to help you and your family navigate life with Pompe disease. Your Patient Education Liaison (PEL) can assist you with disease and Sanofi treatment education, and information about inheritance patterns, genetic assessment and testing options. Your Case Manager can talk to you about health insurance, financial assistance, and care coordination.
Keep in mind: Your healthcare team is always the best source of information and point of contact if you have any questions or concerns about your health.
If you’re not enrolled and interested in speaking with a CareConnect team member, a Case Manager is available to speak with you Monday through Friday, 8AM-6PM EST.
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Call 1-800-745-4447 or email info@CareConnectPSS.com.
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MAT-US-2409362-v1.0-11/2024. Last Updated: November 2024