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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. Hirenkumar Italia
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 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

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Menkes disease symptoms?

Menkes disease symptoms?

Many symptoms: Menkes disease also called menkes syndrome, copper transport disease (decreased copper), kinky hair disease. It is x linked recessive more common in males with growth failure, & deterioration of the nervous system, seizures, failure to thrive & subnormal body temperature.Arteries in the brain can also be coiled with infarcts and hemorrhages. Bones demineralized with fractues.Early death pneumonia. ...Read more

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What are symptoms of wegners disease?

What are symptoms of wegners disease?

Many.: Usually a disease of older folks with males and females equally affected. Typical presentation with fever, migratory joint pain, abdominal pain, hypertension, malaise, anorexia and weight loss. Prodromal symptoms may last for weeks to months. May develop bleeding from lungs, upper airway or kidneys. Confirmation by labs and tissue biopsy when possible. ...Read more

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What are the symptoms of Croup disease?

What are the symptoms of Croup disease?

Croup: Croup is a viral infection caused by parainfluenza virus and causes cough and URI sympoms. Cough tends to be worse at night and sound barky like a seal. Treatment if symptoms are minor are steamy shower or cool air outside. If symptoms are severe nebulized medications or oral/intramuscular steroids may be needed. Fever and sore throat may be present. ...Read more

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What are the symptoms of chagas disease?

What are the symptoms of chagas disease?

See below: Acute phase: no symptoms or nonspecific fever syndrome. Chronic phase: no symptoms (40-50%), cardiomyopathy with congestive failure (10-25%), esophagopathy and colonopathy (5-10%), peripheral neuropathy,meningoencephalitis. ...Read more

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What are the symptoms of Crohn's disease?

What are the symptoms of Crohn's disease?

Many possibilities: There are many potential symptoms: weight loss, diarrhea, abdominal pain, vomiting, iron deficiency, fatigue, blood in the stool, arthritis, fever. Any of these could be symptoms. Its a tricky disease unfortunately. ...Read more

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What are symptoms of dupuytren's disease?

What are symptoms of dupuytren's disease?

Depends: Dupuytrens is a hereditary disease where the palmar fascia, which is just superficial to the flexor tendons, develops benign scarring. Sometimes this scarring simply creates nontender bumps in the palm, but in other patients it may progress to form cords that will cause extension contractures/inability to fully extend the digits. Usually involves the ring and small fingers first. ...Read more

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What are symptoms of pariodontis disease?

What are symptoms of pariodontis disease?

Bleeding gums: Some of he symptoms are bleeding gums, tenderness, loose teeth, painful brushing, halitosis, decay, painful chewing. ...Read more

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What are the symptoms of Crohn's disease?

What are the symptoms of Crohn's disease?

Variable: Symptoms can include abdominal crampy pain, diarhea 8-12 times per day, blood in stool, loss of appetite, weight loss, fatigue, inflammatory process near anus among others. If suspicious see either a colorectal surgeon or gastroenterologist for an evaluation and opinion. ...Read more

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What are the symptoms of Crohn's disease?

What are the symptoms of Crohn's disease?

Multiple: Abdominal pain, cramps, diarrhea, blood in stool, weight loss, fever. Other symptoms depend on complications such as formation of fistulae, intestinal obstruction, nutritional deficiencies and chronic inflammation. ...Read more

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