Genetic Counseling for Pompe Disease

Lindsay Paull and Shawn Lipinski
University of Virginia Health System, Charlottesville, VA, and others

Series: Genetics – Research and Issues
BISAC: MED107000



Volume 10

Issue 1

Volume 2

Volume 3

Special issue: Resilience in breaking the cycle of children’s environmental health disparities
Edited by I Leslie Rubin, Robert J Geller, Abby Mutic, Benjamin A Gitterman, Nathan Mutic, Wayne Garfinkel, Claire D Coles, Kurt Martinuzzi, and Joav Merrick


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The complex nature of glycogen storage disease type II or Pompe disease requires a multi-disciplinary team approach. A genetic counselor trained in metabolic or neuromuscular disorders can be a valuable member of a team of health care professionals working with patients with Pompe disease. The roles and unique clinical skills of a genetic counselor working with Pompe disease are highlighted here. These roles include facilitating the confirmation of a diagnosis, educating the family about the disease, assisting in the management of disease and disease progression, and facilitating the communication process between the patient and the health care team. (Imprint: Nova)



Confirming a Diagnosis

Education and Psychosocial Counseling for Pompe Disease

Treatment and Management Options

Assessing Disease Progression

Managing Disease Progression and Follow up




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