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 …

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 …

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), …

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

Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder …

Nov 14, 2025 · Pompe disease is a metabolic muscle disorder also called acid maltase deficiency, glycogenosis type 2, acid-alpha glucosidase deficiency, and lysosomal storage disease.

It is a rare, progressive, inherited, and often fatal muscular disease [2] - it affects one in 40000 children, [3] but the majority of over 90% of cases is due to late onset adult Pompe disease. [4] …

Pompe disease is named after Johannes C. Pompe, a Dutch doctor who first described the disorder in 1932 in an infant patient. The disease is rare affecting around 1:40,000. Pompe …

Pompe disease is hard to identify because many of its symptoms are shared with other diseases, such as multiple sclerosis and muscular dystrophy. A conclusive way to confirm a diagnosis of …

Jun 10, 2022 · Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your …