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Doctor insights on: Oldest Child Living With Pompe Disease

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What is the definition or description of: pompe disease?

What is the definition or description of: pompe disease?

Pompe disease: 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. ...Read more

Dr. Amanda Itzkoff
6 doctors shared insights

Pompe Disease (Definition)

Is glycogen storage disease type 2. Is an autosomal recessive metabolic disorder with muscle & nerve cell damage, leading to muscle weakness & ...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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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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Can you tell me how pompe disease in adults work?

Can you tell me how pompe disease in adults work?

Mutations of a gene : on Chromosome 17q25.3 that codes for a lysosomal enzyme that breaks down glycogen cause Glycogen Storage Disease Type II or Pompe Disease subtypes . It is autosomal recessive, the mutant gene comes from from both unaffected carrier parents. Age of onset & rate of progression of pelvic & leg, then arm & respiratory muscle weakness vary with subtype. See www.agsdus.org/html/typeiigsd.html. ...Read more

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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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Is it common for divorced women to make their oldest child trustee?

Is it common for divorced women to make their oldest child trustee?

Not medical question: This is not a medical question. Maybe better for a legal website. You need to find a capable, mature adult who you can trust completely to be a trustee. Perhaps it is your oldest child, perhaps it is someone else. ...Read more

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Why are leadership skills more likely to develop in the oldest child in the family?

Why are leadership skills more likely to develop in the oldest child in the family?

If True....: I am not sure that your contention is true. But the oldest is generally expected to take on more responsibility in helping the younger siblings and parents. This engenders responsibility and better decision making if the child is capable ...Read more

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Does the oldest child decide on a parents burial and medical decisions?

Does the oldest child decide on a parents burial and medical decisions?

Not necessarily: Hopefully this has been decided by your parents before it is necessary . That is what a will is for. Parents usually choose the child who they feel should be in charge and that may or may not be the oldest. Being firstborn doesn't rest that responsibility on one just by virtue of birth order...Unless you are an only child. ...Read more

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After a lot of research, I feel pretty confident that I have chronic pelvic girdle pain (my oldest child is 7). What kind Dr do I need to see?

After a lot of research, I feel pretty confident that I have chronic pelvic girdle pain (my oldest child is 7). What kind Dr do I need to see?

Internist: I will depend on your impressions. At least 6 major causes contribute to CPG pain. If you think your discomfort is attributable to CPG pain, an internist will be the first consult to sort through possible causes, and will be in the best position to direct your care. Please request an internist from Healthtap and you will be directed to one of the many qualified internist in the network. Take care. ...Read more