Pompe Disease Information Page | National Institute of Neurological Disorders and Stroke - adult onset pompe disease

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adult onset pompe disease - Pompe Disease | Cleveland Clinic


The so-called adult form of Pompe disease is not an autonomous entity with respect to the classic and juvenile ones, but differs from them mainly for the lower speed of accumulation of glycogen within the lysosomes which explains the late onset of skeletal muscle tissue changes and clinical manifestations.Cited by: 2. Childhood Pompe disease typically presents during childhood and adult Pompe disease during adulthood. Both these forms of Pompe disease are often grouped together as late-onset Pompe disease (abbreviated as LOPD) despite the fact that the time of presentation can vary from the .

If you're older when symptoms start -- as late as an adult in your 60s -- it's known as late-onset Pompe disease. This type tends to move slowly, and it doesn't usually involve your heart. The late-onset form of Pompe disease is milder than the infantile form, and usually the heart is not affected. This is because there is only partial deficiency of GAA. Symptoms may not begin until childhood, adolescence, or adulthood (as late as the seventh decade). About two-thirds of all individuals with Pompe disease have the late-onset form.

Late-onset appears later in a child’s life, or even into the teen years or adulthood. Who gets Pompe disease? Since this is a genetic condition, the people who get this disease inherit it from a parent. It is common, however, that neither parent shows any symptoms. The disease is rare. In the United States, only 1 person in 40,000 is affected.