Published: Jan. 25, 2012
Updated: Jan. 25, 2012
Pompe disease is classified as a lysosomal storage disease, a glycogen storage disease, and a muscle disease and is also known as acid maltase deficiency or glycogen storage disease type II (GSDII).
It is a rare, autosomal recessive inherited disorder, characterized by deficiency of the enzyme acid alfa-glucosidase, which leads to excessive intralysosomal glycogen accumulation leading to muscle deterioration.
Early onset or infantile Pompe disease produces symptoms in the first year of life, including:
Late onset or juvenile or adult Pompe disease produces symptoms between the first decade and much later in life, including muscle weakness and respiratory compromise.
The inpatient and outpatient pediatric physical and occupational therapists at Duke are experienced with working with individuals with Pompe disease to optimize function. The therapists work with the infant, child, or adult to optimize muscle function, prevent secondary impairments such as contracture, deformity, and osteopenia or osteoporosis, and optimize function.
In collaboration with the individual’s family and medical team, a comprehensive plan of care can be developed to optimize function and maximize independence.