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 …

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.

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.

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 [1] which …

Feb 27, 2025 · · GSD type II (Pompe disease): Caused by deficiency of the acid alpha-glucosidase enzyme, which leads to glycogen buildup in muscles and other tissues. · GSD type III (Cori/Forbes …

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 Disease is also …

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] It disables the …

Dec 12, 2024 · Genetic panel testing can tell Pompe disease from muscular dystrophy, which could help offer patients an accurate diagnosis, per a new study.

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 Pompe …