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Doctor insights on: Treatments For Prader Willi Syndrome

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What is prader willi syndrome?

What is prader willi syndrome?

A genetic disorder: Usually from a deletion of a gene on the chromosome 15 inherited from the father, it can also come from having both chr 15's from the mother or both acting as if they came from mother. Infants have low muscle tone & trouble gaining weight; food craving & weight gain start about 18 mos. They have congenital anomalies, intellectual disability, compulsive behavior, & medical problems due to obesity. ...Read more

Dr. Leslie Benson
82 doctors shared insights

Prader Willi Syndrome (Definition)

A genetic disorder that causes obesity, intellectual disability, and shortness in height. ...Read more


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Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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What are features of prader willi syndrome ?

H3O: Hyperphagia (voracious appetite), hypotonia (low muscle tone), hypopigmentation (light colored), and obesity are classic pictures of prader-willi syndrome. ...Read more

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Are there treatments for beckwith wiedemann syndrome?

Are there treatments for beckwith wiedemann syndrome?

It depends: Like most genetic syndromes, there can be few or many symptoms or signs. Treatment depends on the severity, and if treatment is possible. Some people may have ti and never be diagnosed with it because the signs are minor. See https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome ...Read more

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Is there neonatal testing for prader-willi syndrome?

Is there neonatal testing for prader-willi syndrome?

Yes: Genetic test is available: chromosomal analysis, fish, pcr for the uniparental disomy 15. Methylation analysis, which determines the parent of origin of chromosome 15q will detect virtually all cases of the disorder and costs about half that of a chromosome analysis. However, it is not available everywhere. ...Read more

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Is turners syndrome a genetic disorder?

Is turners syndrome a genetic disorder?

Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It is a disorder exclusive to females. Those with ts are born with it. Manifestations vary depending on the genetics. Small stature is one feature most girls have in common with each other. ...Read more

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Prada willi syndrome. what to expect?

Prader-Willi Syn: Good discussion at wikipedia or uptodate.com Learn to spell it as well. ...Read more

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Best treatment for someone who has prader-willi syndrome?

Supportive: Growth hormone, a structured environment, airway pressure for the sleep apnea. Sooner or later, we'll find the hormonal basis of the food cravings and be able to fix it. Good luck. ...Read more

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Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?

Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?

Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. http://ghr.nlm.nih.gov/ is really good (thanks uncle sam). ...Read more

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What is prader-willi syndrome?

What is prader-willi syndrome?

Genetic anomaly: Kids with prader willi syndrome usually obtain the genetic analy from the paternal gene. It is characterized by problems with muscle tone, even noticeable during pregnancy, also due to this difficulty feeding , poor weight gain, as infants. This changes after age 2 when kids develop over eating that can lead to morbid obesity. Also found are; scoliosis, cognitive problems, delayed puberty, etc. ...Read more

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Is kabuki syndrome genetic?

Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...Read more

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What are the tests for prader-willi syndrome?

What are the tests for prader-willi syndrome?

See below:: High resolution chromosomal analysis; fish (stands for fluorescence in situ hybridization, often done at the same time as a chromosome analysis); and new molecular tests: dna methylation test (confirms or rules out pws as a diagnosis, with over 99% accuracy);dna polymorphism studies (done to detect upd-uniparental disomy, requires blood samples from both parents and child for best accuracy). ...Read more

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What is treatment for bartters syndrome ?

What is treatment for bartters syndrome
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Long answer: Bartter's syndrome is an inherited defect in how the kidney handles salt and potassium. Sodium and potassium supplements (maybe calcium and magnesium too) are needed to keep everything in balance. Blood pressure medications are used to help correct the kidney problems. No heavy exercise so you do not become dehydrated. That can cause worse problems with salt & potassium. Eat potassium rich foods. ...Read more

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Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more

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What can someone do for hypermobility syndrome / ehlers-danlos syndrome?

What can someone do for hypermobility syndrome / ehlers-danlos syndrome?

Strengthen: Strengthening opposing muscle groups helps stabilize joints. Avoid concussive sporting activities such as tennis, but leap to activities suck as cycycling, ei. Stationary, or road (mtb) bike. But stabilizing your joints with my recommendations, which involved weight or machines is best. (machines are safeest, because your joints are tracked in a specific motion.) hypermobility causes arthritis. ...Read more

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Tips on prevention to prader-willi syndrome?

Tips on prevention to prader-willi syndrome?

No prevention : Unfortunately there are no ways to prevent prader-willi syndrome. This is a genetic syndrome with an abnormality on the 15th chromosome. If there is a concern for future children, genetic consultation will be a must. ...Read more

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What's the prognosis for people with munchausen syndrome?

What's the prognosis for people with munchausen syndrome?

Very poor: Munchausen syndrome is a chronic condition that can be very difficult to treat. Most people with munchausen syndrome deny they are faking symptoms and will not seek or follow treatment. Even with treatment, it is more realistic to work toward managing the disorder rather than to try curing it. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

Dr. Alan Ali Dr. Ali
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Any treatment for tourette syndrome?

Dr. Alan Ali Dr. Ali
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Any treatment for tourette syndrome?

Tourette: Most cases are mild & require no medications, can benefit from reassurance & psychobehavioral therapy (cognitive therapy, biofeedback) & education. Medications that are helpful for tics are; clonidine, orap, (pimozide) tenex, and other medications that treat comorbid conditions such as OCD & adhd. ...Read more