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Pompe Disease: Symptoms Treatment - Cleveland Clinic Pompe disease is a genetic condition in which a complex sugar called glycogen builds up in the lysosomes of your body’s cells The disease occurs when you lack a specific digestive enzyme called acid alpha-glucosidase (GAA)
Pompe Disease - Symptoms, Causes, Treatment | NORD Pompe disease is a rare disease continuum with variable rates of disease progression and different ages of onset First symptoms can occur at any age from birth to late adulthood Earlier onset compared to later onset is usually associated with faster progression and greater disease severity
Pompe Disease | Newborn Screening Find information about newborn screening for Pompe disease, including causes, signs, symptoms, and treatment
Pompe Disease - GeneReviews® - NCBI Bookshelf Traditionally, Pompe disease has been separated into two major phenotypes – infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD) –based on age of onset, organ involvement (i e , presence of cardiomyopathy), severity, and rate of progression
You have Pompe disease, it doesnt have you Learn how Pompe disease affects your muscles and the impact it can have on breathing and mobility Managing Pompe disease requires more than the medical treatment prescribed by your doctor Learn about the roles that diet, activity, and mental health support can also play
Newborn Screening FACT Sheet Pompe Disease The muscle weakness in this disorder leads to serious breathing problems and most children with non-classic infantile-onset Pompe Disease live only into early childhood
Updates in Pompe Disease: Overview and Emerging Treatment Strategies Evaluation and Management of Infants With a Positive NBS for Pompe Disease1-3 Developed with the expertise of Barbara K Burton, MD, Northwestern University Feinberg School of Medicine, Ann Robert H Lurie Children’s Hospital of Chicago, Illinois
Pompe Disease: Symtoms, Causes, Treatments - WebMD Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy Too much sugar builds up and damages your muscles and organs Pompe