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

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)

Table of Contents

Table of Contents



Confirming a Diagnosis

Education and Psychosocial Counseling for Pompe Disease

Treatment and Management Options

Assessing Disease Progression

Managing Disease Progression and Follow up




Additional information