Pompe Disease
Pompe Disease
“Extraordinary Measures” is an inspirational movie filmed in Portland, Oregon that is inspired by a true story. The movie is about a father who takes extraordinary measures in hopes of finding a cure for Pompe disease, which two of his children suffer from. Pompe Disease is a serious disease that can be life threatening.
Pathophysiology
According to the Genetics Home Reference, Pompe Disease, also known as glycogen storage disease type 2 is an autosomal recessive disease. Autosomal recessive means that each parent carries one copy of the mutated gene but they do not show any signs or symptoms of the disease (GHR, 2014, May, 26). According to the Pompe Community: Pompe Disease is a rare, multisystemic progressive, debilitating, and often fatal neuromuscular disorder. Pompe Disease is linked to a deficiency of the lysosomal enzyme, acid alpha-glucosidase (GAA), which is responsible for the breakdown of glycogen (a stored form of sugar that the body uses for energy) inside of the cells. Without GAA present there is an intralysomal accumulation of glycogen in the muscle cells which leads to a loss of muscle function (Pompe Community, 2014). According to the National Institute of Neurological Disorders and Stroke, Pompe Disease affects all muscle cells in the body but skeletal muscle and cardiac muscle are most seriously affected (NINDS, 2013, February 20). According to the Pompe Community, when there is a continuous accumulation of glycogen it causes lysosomes to swell and eventually rupture, which causes the tissue damage (Pompe Community, 2014).
Signs and Symptoms
According to the Pompe Community, Pompe Disease can set in at any age and progresses differently in every case. Infants who are affected by Pompe Disease often appear “floppy” and have extreme muscle weakness. They may develop milestones such as sitting, rolling over, and talking much later than would be expected, and they may also have difficulties