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Doctor insights on: Pompe's Disease Treatment

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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 is fabry disease treatment?

What is fabry disease treatment?

Fabry Disease Treatm: Treatment of fary disease is enzyme replacement therapy, but unfortunately it costs about 200000.00 us dollars per year and is not a cure but slows the progression of the disease and improves metabolism, and relieves some pain symptoms, but some patients need pain management, analgesics, anticonvulsants and non steroidal anti inflammatory drugs. ...Read more

Dr. Gary Pess Dr. Pess
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How is the dupuytren's disease diagnosed?

Dr. Gary Pess Dr. Pess
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How is the dupuytren's disease diagnosed?

Exam: An examination of the hand to check for nodules, cords and finger contracture. ...Read more

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How is Parkinson's disease inherited?

How is Parkinson's disease inherited?

Mostly not inherited: The vast majority of people with parkinson's seem to get it sporadically, that is without any clear inheritance from family. That being said, we've found around 12 genetic variants that seem to greatly increase the risk of developing pd in some families. Some of them are recessive (rarely crops up), and some are dominant (50% chance of getting it from 1 affected parent). ...Read more

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How is Parkinson's disease diagnosed?

How is Parkinson's disease diagnosed?

History and exam: Parkinson's is usually diagnosed based upon it having very characteristic symptoms and exam findings - namely asymmetric (i.e. Usually starts on one side) tremor at rest, slowness of movements (bradykinesia), and stiffness (rigidity). There are some nuclear medicine tests that show the pathology of pd fairly reliably, but they are fairly new and considered experimental by most insurers. ...Read more

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Is pku and huntington disease the same disease entity?

Is pku and huntington disease the same disease entity?

Some comments: Pku is a problem with children and this needs early diagnosis to prevent profound complications. Huntington's chorea is an autosomal dominant disorder occurring later in life, and is relatively rare, but genetic counseling might be valuable. Neither disorder has any relationship to the other. ...Read more

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How is Parkinson's disease treated?

How is Parkinson's disease treated?

Good Rx available!!: Dopamine meds are mainstay of treatment. Modern therapy recommends longer lasting, milder potency meds first: Azilect (mao-b selective inhibitor) & Dopamine agonists (requip xl/mirapex er/neupro). After they've been maximized & stronger meds are needed to adequately manage symptoms, then sinemet +/- Comtan (stalevo (carbidopa and levodopa and entacapone) is both together) are begun. Tailor rx with side effects in mind for each person. ...Read more

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Is Alzheimer's disease a disease where genetic testing is recommended?

Is Alzheimer's disease a disease where genetic testing is recommended?

Offered .. sometimes: Alzheimer disease is a condition for which we have several genetic tests - apoe e4, app, psen1, & psen2. However, these tests are not used to establish the diagnosis of alzeimer disease. Instead we use them sometimes to help understand inheritance & risk, which is rather tricky. Extensive eduation & genetic counseling are very helpful, but the decision to test or not test should always be yours. ...Read more

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What is the treatment for von recklinghausen's disease?

What is the treatment for von recklinghausen's disease?

None specific: The diagnosis is primarily clinical based on skin lesions. There are two major genetic forms and diagnosis may be confirmed by genetic testing. Treatment is based on the symptoms and organ system affected. See the site below: http://www.Ninds.Nih.Gov/disorders/neurofibromatosis/neurofibromatosis.Htm. ...Read more

Dr. Dr.
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What is the Willis-Ekbom disease disease?

Dr. Dr.
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What is the Willis-Ekbom disease disease?

Restless Legs: Restless Legs Syndrome (RLS), also known as Willis-Ekbom Disease, is a neurological condition associated with abnormal sensations in the legs. It is estimated that 5% of the general population and as many as 10% of those over the age of 65 have this disorder. http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/restless-legs-syndrome/what-is-rls/ ...Read more

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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

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Is cushing's disease curable?

Is cushing's disease curable?

Sometimes: Cushing's disease can be cured by pituitary surgery: removing the small benign tumor causing the adrenal to overwork. However pituitary surgery is not 100% effective and some people may need to have the adrenal glands themselves removed. The options for curing cushing's syndrome depend on its cause, as there many potential causes, including cushing's disease. ...Read more

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What is huntington's disease?

What is huntington's disease?

Movement disorder: Hd is the result of an inherited abnormality due to genetic errors resulting in abnormal movements and behavioral problems. Hd can be diagnosed with genetic tests. It is usually apparent clinically in the 4th or 5th decades. ...Read more

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What is the treatment for huntington's disease?

No cures: There is no cure for huntington's disease. There are treatments for some of the symptoms. For example, medications that block Dopamine are used to reduce abnormal movements. There is some evidence that co-enzyme q10 may slightly slow the disease, but this is not proven. Treatments are also used for depression and other psychiatric symptoms. ...Read more

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How is hodgkin's disease diagnosed?

How is hodgkin's disease diagnosed?

Complex: Cancers, in general, are definitively diagnosed by biopsy (cutting out tissue and examining cells under a microscope). They also usually have distinct patterns of where they arise and spread. Hodgkin's disease, a cancer of lymph cells, may cause enlarged lymph nodes, with lumps in the neck, underarms, groin. Enlarged nodes, liver, or spleen may also be seen on chest x-rays and abdominal ct scans. ...Read more

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How exactly is huntington's disease diagnosed?

How exactly is huntington's disease diagnosed?

Blood Test: A blood test to check for increased repeats in the huntington's gene. ...Read more

Dr. James Chu Dr. Chu
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Is addison's disease genetic?

Dr. James Chu Dr. Chu
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Is addison's disease genetic?

Not usually: The leading causes of Addison' disease in the US are: autoimmune; metastatic cancer; bleeding into adrenal glands; infectious infiltration (such as tuberculosis). Only the autoimmune type may possibly run in families, whose members typically have other autoimmune disorders such as type 1 diabetes, hypothyroidism, vitiligo, pernicious anemia, or myasthenia gravis, to name a few. ...Read more

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Hi. What is wilson disease diseas?

Hi. What is wilson disease diseas?

Copper: Wilson's disease is a disorder of copper metabolism causing too much copper in the blood and tissues. ...Read more

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What is the treatment for von hippel-lindau disease?

What is the treatment for von hippel-lindau disease?

Von Hippel-Lindau: Von hippel-lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and usually appear during young adulthood; however, the signs and symptoms of von hippel-lindau syndrome can occur throughout life. ...Read more