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Doctor insights on: Pompe Disease

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Dr. Jeffrey Satinover
6 doctors shared insights

Pompe Disease (Overview)

Is glycogen storage disease type 2. Is an autosomal recessive metabolic disorder with muscle & nerve cell damage, leading to muscle weakness & myopathy throughout the body.


Dr. Jeffrey Satinover
6 doctors shared insights

Pompe Disease (Overview)

Is glycogen storage disease type 2. Is an autosomal recessive metabolic disorder with muscle & nerve cell damage, leading to muscle weakness & myopathy throughout the body.


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What exactly is pompe disease?

What exactly is pompe disease?

Glycogen storage: Pompes disease is a glygogen storage disorder type ii , due to lack of an enzyme glycogen ( the way you store glucose in muscle and liver) can not be broken down.Glycogen excess in muscle causes severe muscle weakness(hypotonia) and eventuallybrespiratory failure(due to respiratory muscle involvement). ...Read more

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Living with Sickle Cell Disease (Checklist)

Keep doctor's appointments
Once
Go to lab appointments
Once
Keep oxygen up by maintaining low weight, no smoking
Once
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Do you know if adult pompe disease is caused by a sudden mutation or a long build up of glycogen?

Do you know if adult pompe disease is caused by a sudden mutation or a long build up of glycogen?

Long build up: I'm not a geneticist; and, there are good references on this subject easily available on the net. However, a quick answer is long build-up. The disease is viewed as constitutional (born-in) and not a later development of a "sudden mutation". If you are really interested, do your homework on the subject by looking at NIH and other sites. ...Read more

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How is pompe disease treated?

How is pompe disease treated?

Enzyme replacement: Through biotechnology, enzyme replacement has been developed, which should stabilize the symptoms. ...Read more

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Living with Celiac Disease (Checklist)

Schedule a visit with a dietitian
Once
When eating out, inform your waitstaff you are intolerant of gluten
Once
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How do I get rid of lines disease?

How do I get rid of lines disease?

Lyme Disease: Oral antibiotics are the standard treatment for early-stage lyme disease. These usually include Doxycycline for adults and children older than 8, or Amoxicillin or Cefuroxime for adults, younger children, and pregnant or breast-feeding women. These drugs often clear the infection and prevent complications. A 14- to 21-day course of antibiotics is usually recommended. ...Read more

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How is pompe disease treated?

Enzyme replacement: Through biotechnology, enzyme replacement has been developed, which should stabilize the symptoms. ...Read more

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Living with Crohn's Disease (Checklist)

Find a gastroenterologist and follow their treatment regiment
Once
Stop smoking
Once
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What exactly is pompe disease?

Glycogen storage: Pompes disease is a glygogen storage disorder type ii , due to lack of an enzyme glycogen ( the way you store glucose in muscle and liver) can not be broken down.Glycogen excess in muscle causes severe muscle weakness(hypotonia) and eventuallybrespiratory failure(due to respiratory muscle involvement). ...Read more

See 1 more doctor answer