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
Details
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)
Abstract
Introduction
Confirming a Diagnosis
Education and Psychosocial Counseling for Pompe Disease
Treatment and Management Options
Assessing Disease Progression
Managing Disease Progression and Follow up
Conclusion
References
Index
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