The physical signs of Pompe disease are so discreet, they may even go unnoticed. An awkward limp or waddle in a young child, especially one just learning to gain his or her balance isn’t uncommon, but persistent waddling in children such as Eric Hamlin can be one of the first signs of a severe and potentially terminal disorder.
What is it?
Pompe disease is a rare and fatal disorder caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA), which immobilizes the heart and muscles from proper functionality. Under normal circumstances, the body has the ability to break down glycogen (stored sugars used for energy), but for those with this gene mutation, the essential enzymes are reduced or completely eliminated. As excessive amounts of glycogen collect, the cells within the heart and skeletal muscles become significantly damaged.
Forms of Pompe:
There are two forms of Pompe disease – infantile and juvenile adult. Infantile, commonly referred to as early-onset, is typically recognized within the first few months following birth and continues to progress at a rapid pace. The worst case scenario is that the progression will continue to the point of a child’s death by the age of two years old due to heart failure. With juvenile adult, or late-onset, the progression moves at a much slower pace, but muscle weakness remains the same.
Treatment:
Because of extensive research uncovering the details of the GAA gene, physicians now have a healthier understanding of the biological mechanisms and properties that encompass the GAA enzyme. Myozyme, an enzyme replacement, has been developed and approved by the U.S. Food and Drug Administration. The drug been praised for its successful results in reversing muscle damage, reducing muscular weakness and enhancing overall life expectancy. Patients with Pompe need consistent and specialized care to manage disease progression.
National Institute of Neurological Disorders and Stroke: http://
www.ninds.nih.gov/disorders/pompe/pompe.htm
Pompe Community: http://www.pompe.com/en/patients/managing-pompe.aspx
United Pompe Foundaton: http://www.unitedpompe.com/magazine.cfm
National Institute of Arthritis and Musculoskeletal and Skin Diseases: http://
www.niams.nih.gov/Health_Info/Pompe_Disease/default.asp
Los Angeles Times: http://latimesblogs.latimes.com/booster_shots/2010/05/
the-fda-approves-new-drug-for-pompe-disease.html