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Doctor insights on: Pompe Disease Symptoms

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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

Dr. Krishna Kumar
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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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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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

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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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What are the symptoms of addison s disease like?

What are the symptoms of addison s disease like?

Addison's disease: Fatigue, lightheadedness while standing, muscle weakness, fever, weight loss, sweating, nausea/vomiting/diarrhea, headaches, muscle/joint pains, mood changes. ...Read more

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For reference, how do you know most likely if you contract any disease(s) even though there is no symptoms or if you don't have any. Plz help. Thanks?

For reference, how do you know most likely if you contract any disease(s) even though there is no symptoms or if you don't have any. Plz help. Thanks?

Preventive visit: See the Dr. annually for a preventive Visit and you will get a good Physical and some routine blood work to assure you are well. They may order any preventative tests as well on you, depending on your age and any risk factors you have based on your exam and family history, etc. Best wishes. ...Read more

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What are the symptoms of gaucher's disease?

What are the symptoms of gaucher's disease?

Depends on type.: Depending on which type of gaucher's, symptoms can range from painless enlarged spleen or liver, anemia, easy bruising, nosebleeds, chronic fatigue, bone pain, or easily broken bones, to increased muscle tone, seizures, 'lazy eye', failure to thrive, swallowing abnormalities, stridor, developmental delay, or death. ...Read more

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What are the symptoms of a disease knows as "Chikunguya"?

See below: Fever, muscle aches and sever bone pain are common. The severity varies. Some people may get a rash. See this site for more info. http://www.cdc.gov/chikungunya/ ...Read more