It is an autosomal recessive inheritance, meaning both parents are genetic carriers of the disease but donβt have the disease itself. As a result of this deficiency, the substance glycogen accumulates in cardiac and skeletal muscle cells and causes damage Learn about pompe disease, including symptoms, causes, and treatments
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If you or a loved one is affected by this condition, visit nord to find resources and
Find information about newborn screening for pompe disease, including causes, signs, symptoms, and treatment.
The clinical presentation of pompe disease is a spectrum between the cardiac and skeletal muscle dysfunction and has wide variability Pompe disease is a rare genetic condition that causes muscle weakness that gets worse over time It can have a serious effect on many of the body's systems Pompe disease is also called acid maltase deficiency disease and glycogen storage disease type ii
The younger a child is at diagnosis, the. Learn more about glycogen storage disease, type ii (pompe disease) Find out about newborn screening for pompe disease, signs and symptoms, what happens next, and more. Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells
Explore symptoms, inheritance, genetics of this condition.
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.
