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Doctor insights on: Medicine For Gaucher Disease

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Is gaucher disease rare?

Is gaucher disease rare?

Uncommon: This genetic problem occurs in about one in 50, 000 to one in 100, 000 people. There are several types. One is more common in certain ethnic groups. ...Read more

Dr. James Chapman
15 Doctors shared insights

Gaucher Disease (Definition)

A genetic disorder with enzyme deficiency. Causes fatty deposit storage in many ...Read more


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Can you tell me what is gaucher disease?

Can you tell me what is gaucher disease?

There isn't enough -: Space here to explain it. Briefly its one of the hemapoietic disorders, due to deficiency of a specific enzyme. Seen in kids with bone pain deformities due to bones not forming normally; bleeding can occur into joints, under the skin, liver/spleen can become rather large and due to all this kids have anemia. Can affect the hips.
Treatment depends on their symptoms ; enzyme replacement therapy. ...Read more

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What is the definition or description of: gaucher disease?

Inherited metabolic: Genetic disorder with enzyme deficiency. Causes fatty deposit storage in many tissues associated with pain. ...Read more

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Can you please tell me about gaucher disease in a really easy definition?

Cell problem: An enzyme deficiency (genetic) that results in accumulation of toxic material in certain cells. ...Read more

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What occurs to people with gaucher disease type 2 that don't get treated?

Not good: "gaucher disease has the earliest onset, within the first 3 to 6 months of life and it is fatal; causing death before 2 years of age. Due to the shortened lifespan, babies with type 2 will not survive long enough to develop some symptoms experienced by individuals with type 1 and type 3."
not sure treatment will help...This is very sad.
http://www. Gaucherdisease. Org/gaucher-disease-type2-type3.php. ...Read more

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What is effective therapy for gaucher disease?

Adults & children: With GD Type 1 may have symptom reduction or reversal from Enzyme Replacement Therapy. Different ERT's are approved for kids & adults. Substrate Reduction Therapy is given to adults with mild Type 1 who can't take ERT. No treatment can reverse brain damage in patients with Type 2 or Type 3. Mutations of a gene on Chr. 1p22 cause all 3 Types. Call the National Gaucher Foundation, 800-504-3189. ...Read more

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Can a fetus be genetically tested for gaucher disease?

Yes, if both parents: Are carriers of 1 or more mutations that cause the different types of Gaucher Disease (GD) or, less commonly, if mom has GD, Chorionic Villous Sampling or Amniocentesis for DNA mutations & enzyme analysis for GD is warranted. It is important to know the parents' specific mutation (s), preferably before conception, to guide both prenatal testing & testing of all family members for carrier status. ...Read more

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Can you tell me things to keep in mind about gaucher disease?

Can you tell me things to keep in mind about gaucher disease?

Get in touch with a: Pediatric orthopedist who deals with these problems. Treatment is generally supportive, depending on the symptoms. The enzyme that is deficient in the body of these kids, its replacement therapy is available. Get the kid regularly checked. ...Read more

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My girl baby is 2 yrs old. She is suffering from gaucher disease (type -1), what to do?

Gaucher Disease: Gaucher Disease is a genetic disorder. Type I is the most common and symptoms can be minimized with enzyme replacement therapy. Your child should have a solid medical team consisting of at least of a general pediatrician and a genetics consultant. ...Read more

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What to do if my girl baby is 2 yrs old. She is suffering from gaucher disease (type -1)i want to know about?

Metabolic Specialist: There are many excellent internet resources, including the National Gaucher Foundation (www. Gaucherdisease. Org) and the NIH'sG enetics Home Reference (ghr. Nlm. Nih. Gov/condition/gaucher-disease). Ask your doctor for a referral to a metabolic or genetic specialist for further care. ...Read more

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What medicines are use for lou gehrig's disease?

What medicines are use for lou gehrig's disease?

Treatment: It's mostly supportive, but a drug called Riluzole is approved for ALS and it's thought to work by decreasing glutamate mediated motor neuron cell death. ...Read more

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What are the diseases in which prednisolon medicine can be used at its best?

What are the diseases in which prednisolon medicine can be used at its best?

Several: Steroids can be used for back pain (inflammation), some brain/sinal cord injuries with swelling, asthma, COPD (emphysema), dermatitis (contact-posion ivy, etc), certain collagen vascular diseases, etc. Etc. Hope this helps. ...Read more

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Hi. What is the best drugs, pencillamin or trientine for wilson's disease?

Wilson's disease: Check out http://www. Mayoclinic. Com/health/wilsons-disease/ds00411 for info re wilson's disease which is autosomal recessive cause of excess copper. Both Penicillamine & trientine are used to chelate & remove excess copper. There's no best drug for everyone but rather a best drug for you. Talk to your doc about what's available to you, what's affordable, and what side effects are tolerable to you. ...Read more

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What medicines help with degenerative disc disease?

What medicines help with degenerative disc disease?

A variety: Of non steroidal anti inflammatory medication as long as there are no contraindications like allergies, use of blood thinners, kidney or liver disease or ulcer/reflux issues. Tylenol (acetaminophen) is an option. Other types of drugs like cymbalta, Elavil and neurontin/lyrica may also help. Ideally, not smoking, regular exercise and weight control are also helpful. Good levels of vitamin d also are important. ...Read more

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Can coeliac disease prevent me from studying medicine?

Can coeliac disease prevent me from studying medicine?

No!!!!!: Many people live with celiac disease and are highly functioning professionals. Strict adherence to a gluten-free diet is crucial. That also means reading labels very carefully. You should shop at the gluten-free section, available in most groceries, be under competent medical supervision. Also see www. Celiac. Nih. Gov/materials. Aspx; www. Celiac. Org/ ...Read more

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What drug is used to treat hodgkin's disease lymphoma?

What drug is used to treat hodgkin's disease lymphoma?

ABVD: Adriamycin (doxorubicin)
Bleomycin
Vinbastine
Dacarbazine

The combination of the 4, all given every 2 weeks for 8 or 12 times depending on the stage of the cancer is the gold standard ...Read more

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I want the best medicine for removal of this disease ie milia?

I want the best medicine for removal of this disease ie milia?

Extraction: Milia are inclusion cysts. The best way to get rid of them is to have them extracted by an aesthetician or dermatology practice ...Read more

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Could you tell me what are some diseases brought by drug abuse?

Could you tell me what are some diseases brought by drug abuse?

Many: Drug or substance abuse can be at the helm of many disease states which can affect your mental, psychological, and physiological systems in your body. The list is long and includes every organ system causing accelerated or preventable damage to your body. ...Read more