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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 …

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 …

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.

Feb 27, 2025 · Several groups are working to improve the efficacy of ERT and to explore its optimal use in late-onset Pompe disease. Approved and emerging therapies for Pompe …

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 …

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 can present in infancy, childhood, adolescence or adulthood. In the most severe form – infantile-onset Pompe disease (IOPD) – newborns typically present within the first few …