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  1. Acid maltase deficiency (Pompe disease) - Muscular Dystrophy

    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 …

  2. Pompe Disease - Symptoms, Causes, Treatment | NORD

    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), …

  3. Pompe Disease: Symptoms & Treatment - Cleveland Clinic

    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 …

  4. Glycogen storage disease type II - Wikipedia

    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 …

  5. Pompe disease - Muscular Dystrophy UK

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

  6. Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview

    LOPD can have onset anywhere from infancy to late adulthood. It presents with a pattern of symmetric limb-girdle muscle weakness and LOPD was till recently classified additional under …

  7. Pompe Disease Archives - Quest | Muscular Dystrophy Association

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

  8. Pompe Disease | ALS and Neuromuscular Disease Center | Barrow ...

    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 …

  9. Late-onset Pompe disease lder girdle, abdomi Polymyositis: progressive, symmetric, unexplained muscle weakness. Limb-girdle muscular dystrophy: progressive muscle weakness in the legs, …

  10. Genetic panel can tell Pompe disease from muscular dystrophy

    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.