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Doctor insights on: Joubert Syndrome

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Dr. Tiffanie Noonan
3 doctors shared insights

Joubert Syndrome (Overview)

Joubert syndrome is a rare genetic condition that affects normal development of a growing fetus, most notably the cerebellum, a portion of the brain that controls balance, posture and motor learning. Infants with this disorder often have other other abnormalities associated with various organs such as the eyes, liver, kidneys, lungs, and limbs.


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Is there a treatment for joubert syndrome ...Can some provide more information on this..My siters son is affected with this syndrome .

Is there a treatment for joubert syndrome ...Can some provide more information on this..My siters son is affected with this syndrome .

Manifestations of : Joubert syndrome vary widely. Supportive treatments must be tailored to your nephew's medical, developmental & educational needs. World-wide support & information is available from the joubert syndrome foundation & related cerebellar disorders 414 hungerford drive suite 252 rockville, md 20850 tel: 614-864-1362 email: info@jsfrcd.Org http://www.Jsfrcd.Org. ...Read more

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Dr. Tiffanie Noonan
3 doctors shared insights

Joubert Syndrome (Overview)

Joubert syndrome is a rare genetic condition that affects normal development of a growing fetus, most notably the cerebellum, a portion of the brain that controls balance, posture and motor learning. Infants with this disorder often have other other abnormalities associated with various organs such as the eyes, liver, kidneys, lungs, and limbs.


2

2
Is there a treatment for joubert syndrome ...Can some provide more information on this..My siters son is affected with this syndrome .

Manifestations of : Joubert syndrome vary widely. Supportive treatments must be tailored to your nephew's medical, developmental & educational needs. World-wide support & information is available from the joubert syndrome foundation & related cerebellar disorders 414 hungerford drive suite 252 rockville, md 20850 tel: 614-864-1362 email: info@jsfrcd.Org http://www.Jsfrcd.Org. ...Read more

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Dr. John Landi Dr. Landi
<b>1</b> doctor agreed:
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Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
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What's the Kundalini syndrome?

What's the Kundalini syndrome?

Kundalini: The kundalini syndrome has been reported in people with near-death experiences or with some types of yoga & meditation. The main sx is a feeling of energy or heat at the spine. It can also include severe headaches, sense of energy or heat in the hands, ecstasy, body tremor or vibration, sense of heat or cold moving through the body, sensing inner lights as well as other tactile experiences. ...Read more

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Can sjogen's syndrome be cured?

Can sjogen's syndrome be cured?

See below: There is no true cure for autoimmune diseases such as sjogren's---our goal is to put them into remission with medications so that you can feel better. ...Read more

Dr. Joshua Batt Dr. Batt
<b>1</b> doctor agreed:
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Managing Carpal Tunnel Syndrome (Checklist)

Visit your medical provider for accurate diagnosis
Once
Wear a wrist brace at night
daily
Take pain medications as directed
Once
Use proper posture when performing tasks
Once
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What is gillian barre syndrome?

What is gillian barre syndrome?

Autoimmune: An autoimmune disease that attacks the myelin sheaths on your peripheral nerves. Usually starts in feet an ascends. Sometimes starts in the eyes. ...Read more

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What is XYY syndrome or disease?

What is XYY syndrome or disease?

Extra Y chromosome: About one man in 1000 has an extra Y chromosome and it's likely to be discovered only if there's some investigation because of some problem such as autism. This has given rise to the myth that autism, criminal behavior and so forth are more common in such men. They average taller and tend to get worse acne. The "criminal" claims haven't held up to real science. ...Read more

Dr. Felix Toro Dr. Toro
<b>1</b> doctor agreed:
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Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Listen, listen, listen
once
Practice stress management and mindfulness
2x day
Do not be afraid to Ask for feedback
3x day
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How serious is Alstrom syndrome?

How serious is Alstrom syndrome?

Depends on Severity: In some cases there can be serious issues with liver, kidneys, bladder, & /or lungs. ...Read more

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Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
once
Reverse PCOS & problems with HFLC foods, study: http://goo.gl/JH8XBX
daily
Monitor your weight and review your diet daily.
daily
Blend exercises which make sense into your daily routine
daily
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What is dual retraction syndrome?

What is dual retraction syndrome?

Typo?: There is no such thing. Do you mean Duane's Retraction syndrome? If so, here you go: https://en.wikipedia.org/wiki/Duane_syndrome It's a rare congenital cause of strabismus (unable to move eye normally). If that is not what you meant, please ask your question again and clarify. ...Read more

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What is deletion syndrome 22q.11?

Highly variable: This is fairly common and quite variable clinically depending on the extent of the deletion. DiGeorge and velocardialfacial syndrome patients may have deletions here. There's a good review at http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome ...Read more

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Living with Down Syndrome (Checklist)

Get genetic counseling.
Once
Enroll in early intervention program.
Once
Get help from local and national support groups.
Once
Consider help from mental health workers.
Once
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What is stephen johnsons syndrome?

What is stephen johnsons syndrome?

SJS: A very serious skin reaction with very high morbidity and poor prognosis. Drugs are the most common cause, but viral infections (including hiv) have also been implicated. If there is even the slightest concern for sjs, you need to seek immediate dermatologic evaluation as this is a medical emergency. This is in the same family as erythema multiforme and toxic epidermal necrolysis. ...Read more

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How is Alstrom syndrome diagnosed?

How is Alstrom syndrome diagnosed?

Alstrom syndrome: Usually diagnosed clinically due to sparsity of labs that offer genetic testing for the condition. ...Read more

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Living with Irritable Bowel Syndrome (Checklist)

Try to notice and avoid precipitating factors
Once
Start a trial of increased dietary fiber
Once
See your PMD or gastroenterologist if symptoms persist
Once
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Will I die from sjögren’s syndrome?

Will I die from sjögren’s syndrome?

No: Sjogren's does give you a somewhat increased risk of malignant lymphoma, and it may run with a disease like lupus or scleroderma which you'd know by now whether or not you have. By itself, sjogren's is a nuisance disease. The most dangerous feature is that maybe 1% of patients get a vasculitis that can cause brain dysfunction that mimics multiple sclerosis. Be alert as it's manageable. ...Read more

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What is turners syndrome prognosis?

What is turners syndrome prognosis?

Turner's Syndrome: The prognosis for turner's syndrome diagnosed at birth is usually good. They will be short. They have streaked gonads. They can have a webbed neck. There can be lymphedema. There can be associated perceptual problems. They are not necessarily mentally retarded. There can be coarctation of the aorta. ...Read more

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