Managing Pompe Disease

Treatment of Pompe disease includes a combination of disease-specific and supportive therapies. Because patients with the disease can have a wide range of clinical manifestations and functional impairment, they are best followed by a multidisciplinary team headed by a physician with experience treating Pompe disease or similar disorders.[1-3] Historically, treatment of Pompe disease has focused on managing symptoms and offering supportive care, and these continue to be critical components of the overall treatment approach.

Patient Care Issues

Treating and managing this progressive, debilitating, and often life-threatening neuromuscular disease requires a team of medical specialists and a multidisciplinary approach.

References

  1. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
  2. Bembi B, Cerini E, Danesino C, et al. Diagnosis of glycogenosis type II. Neurology. 2008;71(23 Suppl 2):S4-11.
  3. Oba-Shinjo S, da Silva R, Andrade F, et al. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. J Neurol 2009;256(11):1881-90.

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Schedule of Assessments

The Pompe Registry has developed a recommended schedule of assessments to help in the care and monitoring of patients with Pompe disease.

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Pompe Registry

Find out about the Pompe Registry, an ongoing, observational database that tracks natural history and outcomes of patients with Pompe disease.

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