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Pompe Disease

By the time Pompe disease slows him down, the damage has already begun1-3

What is Pompe disease?

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Signs and Symptoms of Pompe disease
  • Rare Diseases
  • Pompe Disease

Signs and Symptoms of Pompe disease

Pompe disease should be considered as part of the differential diagnosis for all children and adults presenting with limb-girdle muscle weakness and respiratory insufficiency1

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What is Pompe disease?
  • Rare Diseases
  • Pompe Disease

What is Pompe disease?

Pompe disease (glycogen storage type II disease) is caused by a deficiency of acid alphaglucosidase (GAA) enzyme activity, resulting in lysosomal glycogen accumulation in muscles and irreversible muscle damage.1-3

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  1. Kishnani PS, et al. J Pediatr. 2004;144(5 suppl):S35-S43
  2. Kishnani PS, et al; ACMG Work Group on Management of Pompe Disease. Genet Med. 2006;8(5):267-288. doi:10. 1097101.gim.0000218152.87434.f3.
  3. AANEM. Muscle Nerve. 2009;40(1):149-160.

MAT-IQ-2300013-V1-Jan2023