Question 1

how is pompe disease treated?

Accepted Answer

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

Question 2

what exactly is pompe disease?

Accepted Answer

Glycogen Storage: A genetic disease where there is accumulation of glycogen in muscle, heart, and liver because of a deficiency in the enzyme, acid maltase, which helps to convert glycogen into the usable glucose fuel for the body. There are 3 types. Please refer to this site for more info http://ghr.Nlm.Nih.Gov/condition/pompe-disease.

Question 3

what is the definition of pompe disease?

Accepted Answer

GSD type II: This website will be helpful:  http://www.Ninds.Nih.Gov/disorders/pompe/pompe.Htm.

Question 4

what is the definition or description of: pompe disease?

Accepted Answer

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.

Question 5

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

Accepted Answer

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.

Question 6

is boil a sign of some disease?

Accepted Answer

Yes: Bacterial infection--need antibiotics--may need drainage.

Question 7

what are signs of raynard's disease?

Accepted Answer

Fingers change color: Fingers with cold get white then purple than red usually with pain.

Question 8

what're the signs of addison's disease?

Accepted Answer

Addison's : Adrenal insufficiency with low cortisol levels causes hypoglycemia, low blood pressure and inability to respond to physiologic stress. Electrolyte abnormalities and increased skin pigment are also signs.

Question 9

what signs are there for celiac disease?

Accepted Answer

Abdominal discomfort: Individuals with celiac disease can have a variety of different symptoms and may even be asymptomatic. Often it is associated with gastrointestinal distress including pale stools that are associated with non-specific diarrhea, cramping, and bloating. The diagnosis can only be made by a physician.   If symptoms improve with a gluten free diet, the chances of  having celiac disease are greater.

Question 10

what are typical signs of celiac disease?

Accepted Answer

Weight loss: If you are experiencing unexplained weight loss, gastrointestinal symptoms especially after having eaten gluten (usually in wheat), and even nerve problems (numbness, you should considered being tested for gluten intolerance.  A simple blood test may provide the diagnosis (although not as definitive as an intestinal biospy) but you must be eating gluten for the test to be accurate.

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Doctor answers about:

Pompe disease signs

A member asked:

How is pompe disease treated?

A member asked:

What exactly is pompe disease?

A member asked:

What is the definition of pompe disease?

A member asked:

What is the definition or description of: pompe disease?

A member asked:

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

A member asked:

Is boil a sign of some disease?

A member asked:

What are signs of raynard's disease?

A member asked:

What're the signs of addison's disease?

A member asked:

What signs are there for celiac disease?

A member asked:

What are typical signs of celiac disease?

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