Sep 22, 2023 · Pompe disease is a rare genetic condition that causes muscle weakness that can lead to life-threatening complications. Learn more about the symptoms and treatment of this disorder.

Download our Pompe Disease Fact Sheet Download our Pompe Disease Treatment Fact Sheet What is acid maltase deficiency (also called AMD, Pompe disease, glycogenosis type 2, acid-alpha …

Jan 18, 2024 · A few muscular dystrophies may have symptoms that are like those seen in childhood and adult Pompe disease including facioscapulohumeral dystrophy (FSHD), Duchenne muscular …

Pompe disease is a neuromuscular condition that mostly affects skeletal and respiratory muscles. Learn about symptoms, diagnosis, and management.

The gene comprehensive muscular dystrophy panel found two pathogenic variants in the GAA gene. Both GAA variants are known to be associated with late-onset Pompe disease (LOPH). In addition, …

Proceedings from a Symposium at the 2023 Muscular Dystrophy Association (MDA) Meeting There has been significant progress in the treatment paradigms for Pompe disease (PD) in recent years with …

Apr 25, 2025 · Understanding Pompe Disease is crucial not only for patients and their families but also for healthcare providers, as early diagnosis and intervention can significantly improve outcomes. This …

May 14, 2025 · At the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific conference, held March 16-19 in Dallas, Texas, a track session focused on the mechanisms, therapeutic advances, …

Jun 10, 2022 · If you or your child has Pompe disease, it's important to know that each case is different, and that doctors have treatments to help manage it. Pompe disease happens when your body can't …

How is Pompe disease treated? Treatment for Pompe disease should involve a multidisci-plinary team of specialists (such as a cardiologist, neurologist, and respiratory therapist) who are knowledgeable …