Management Guidelines

Although the underlying basis of Pompe disease is progressive muscular degeneration, the disease can affect different organs and systems. Therefore patient care and management of this multisystemic disorder is best handled by a multidisciplinary team of healthcare providers.[1-3]

The American College of Medical Genetics (ACMG) has published standard of care guidelines for Pompe disease.  These guidelines, developed by an international team of multi-disciplinary experts in various aspects of the disease, aim to help facilitate prompt diagnosis and timely, individualized treatment plans.[1]

If you would like to read the complete ACMG guidelines, you can search PubMed online (fees may apply).

A Team Approach

Optimal management of Pompe disease requires a multidisciplinary approach, with treatment aimed at disease-specific and supportive therapies. Disease management should be coordinated by a specialist with experience in managing patients with this disease. Team members may include:[1]

  • Neuromuscular specialist
  • Neurologist
  • Cardiologist
  • Pulmonologist
  • Intensivist
  • Orthopedist
  • Rehabilitation therapist (eg, respiratory, physical, occupational, speech)
  • Metabolic dietician 
  • Genetic counselor

Infants may require pediatric specialists, especially to manage cardiac complications.

Take Note: Disease Management & Monitoring

For more information on how these professionals may contribute to patient care, visit the Symptom Management & Supportive Care page, where you will find links to additional detail pages on the different areas of medical concern.

To find out about recommendations for monitoring disease progression and patient status, visit the Ongoing Monitoring page.

References

  1. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. 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. Epub 2009 Jul 9.Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling. Eur J Hum Genet 1999 Sep; 7(6): 713-6.

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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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