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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), 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 …

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.

Aug 31, 2007 · Pompe disease can be classified by age of onset, organ involvement, severity, and rate of progression into infantile-onset Pompe disease (IOPD) (i.e., individuals with onset before age 12 …

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

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 …

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 months of life …