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Doctor insights on: Joubert Syndrome Life Expectancy

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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

Dr. Lonnie Smith
3 Doctors shared insights

Joubert Syndrome (Definition)

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, ...Read more


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Lenox gastaut syndrome average life expectancy?

Lenox gastaut syndrome average life expectancy?

Haven't seen numbers: Haven't seen any numbers on life expectancy of lennox-gastaut patients. Maybe nobody has collected and published that information. One website reported a 3%-7% mortality in patients over a 9 year period (that sounds like 1/2 % per year). The deaths were often due to accidents. In such disorders, if a person is watched and cared for closely, he can outlive parents, and die of other natural causes. ...Read more

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What is the life expectancy with triple x syndrome?

What is the life expectancy with triple x syndrome?

Normal: Life expectancy should be normal. There are no effects that affect heart, or other major systems that would reduce life expectancy. ...Read more

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What is the life expectancy for kids with noonan syndrome?

What is the life expectancy for kids with noonan syndrome?

May be normal: Children with Noonan's Syndrome may have cardiac abnormalities such as pulmonic stenosis, ASD (atrial septal defect), VSD (ventricular septal defect). If these abnormalities are mild, then the life expectancy may be normal. ...Read more

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Can you please lay out the life expectancy for people who have down syndrome?

Can you please lay out the life expectancy for people who have down syndrome?

Average > 60 yrs: As long as the initial issues facing these infants are addressed as they would for normal kids (heart defects, abdominal defects, etc) they have a projected lifespan in excess of 60 years. ...Read more

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What is the life expectancy for people with loeys-dietz syndrome?

What is the life expectancy for people with loeys-dietz syndrome?

Not Known: This disease has been diagnosed in about 300-500 people and is known as a disease entity only since 2005. Life expectancy is expected to increase like in Marfan's syndrome with improved awareness and medical progress.

Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely.

A valuable resource for this is
http://www. Loeysdietz. Org/index. Ph. ...Read more

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What is the life expectancy of someone woth kearn- sayres syndrome?

What is the life expectancy of someone woth kearn- sayres syndrome?

No data about this: Life expectancy is generally reduced but there is no data available to tell us how much it is reduced. It depends on the complications of the disease, especially if there are cardiac problems. ...Read more

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What is the life expectancy for kids who have treachers collins syndrome?

What is the life expectancy for kids who have treachers collins syndrome?

Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more

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My friend has a mild form of marphan syndrome. She takes her medication. What's her life expectancy?

My friend has a mild form of marphan syndrome. She takes her medication. What's her life expectancy?

Marfan syndrome: With excellent care, can be normal. Cardiac and vascular care by specialists is essential. ...Read more

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Does WPW syndrome affect life expectancy?

Does WPW syndrome affect life expectancy?

Depends: If diagnosed and properly treated (usually with a procedure called an ablation) one can have a normal life expectancy. However, prior to treatment a patient may have a fast heart rhythm that can be dangerous and potentially life threatening. ...Read more

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Is there a life expectancy for Treachery Collins Syndrome?

Is there a life expectancy for Treachery Collins Syndrome?

Normal: Why do you ask? If a family member is affected, the parents should have received genetics counseling: If not, they should arrange for it. See TreacherCollins. Org ...Read more

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What is the life expectancy for patients with apert syndrome?

What is the life expectancy for patients with apert syndrome?

Normal: Before neurosurgeons learned how to open prematurely fused skull sutures, patients who went untreated would have severe effects from constricting the brain, since the skull could not enlarge fast enough to accommodate the growing brain. When treated early, the brain is allowed to grow normally. ...Read more

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I want to khnow about the life expectancy in west syndrome patients.?

I want to khnow about the life expectancy in west syndrome patients.?

Can be normal: Very tricky question. We know that over 80% of affected children reach beyond age 5 & it's not unusual for them to have normal lifespans. It's also dependent upon the cause of the spasms & whether the underlying reason (s) can be treated. The syndrome itself is not life threatening itself rather related illnesses that tend to complicate things in addition to medication consequences. ...Read more

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What's the average life expectancy of a person with williams syndrome?

What's the average life expectancy of a person with williams syndrome?

Genetic disorder: Rare disorder multiple systems involved apearance of face and body demonstrates poor developement. Loss of hearing, diabetes, heart failure, aortic valve abnormalities, high blood pressure, just to name a few issues. Life expectancy depends on early diagnosis and intense treatment and follow up. It can be normal except if there heart defect that is serious. ...Read more

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I want to khnow about the life expectancy in west syndrome patients.?

I want to khnow about the life expectancy in west syndrome patients.?

Here are some...: Since West syndrome is a very rare epileptic condition in the infants, most of doctors may not have personal experience in it. But, I found the contents in the link to follow could be helpful; that is http://syndrome. Org/west-syndrome/. Best wish to his health and your family; Happy Holidays 2015. ...Read more

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What would the life expectancy of a patient with aspergers syndrome be?

What would the life expectancy of a patient with aspergers syndrome be?

Normal exectancy: Individuals with aspergers disorder do not have any specific related conditions that would shorten the life span of an affected individual. ...Read more

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Polymyositis life expectancy with sjogren's syndrome? What is prognosis?

Polymyositis life expectancy with sjogren's syndrome? What is prognosis?

Depends: On the course of the disease, organ involvement, baseline health status, the aggressiveness of the condition, and many other factors (response to treatment, etc.). ...Read more

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I have Marfan syndrome. Is there tests that can prolong my life expectancy?

I have Marfan syndrome. Is there tests that can prolong my life expectancy?

An echocardiogram: If you have Marfan syndrome, you should be aware that your cardiologist can use ultrasound to watch for the gradual enlargement of your aorta. Depending on your age, height, and weight, she can determine whether your aorta is growing larger than normal and recommend either medicine, like a beta blocker, or surgery to prevent dissection or rupture of the aorta. ...Read more

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Could my genetic syndrome shorten life expectancy (please answer!)?

Could my genetic syndrome shorten life expectancy (please answer!)?

Genetic disorders: It would help if you would be specific about what your genetic disorder is. ...Read more

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What is the life expectancy for someone with Treacher Collins Syndrome?

What is the life expectancy for someone with Treacher Collins Syndrome?

Usually normal: The life expectancy of a person with Treacher Collins Syndrome is normal. The exception is if there are significant jaw malformations which can affect breathing. ...Read more

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What is the life expectancy of a teen with type 1 diabetes and down syndrome?

What is the life expectancy of a teen with type 1 diabetes and down syndrome?

Hard to say: I as a nursing home director had a patient with downs syndrome and diabetes. She just expired at the age of 65 from complications of pneumonia. She did very well until the very end of life. ...Read more

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For someone with Marfan syndrome. Is there treatments that can prolong his life expectancy?

For someone with Marfan syndrome. Is there treatments that can prolong his life expectancy?

Several treatments!: Yes! children and adults with Marfan syndrome can have gradual widening of the aorta - the major artery connected to your heart. Sometimes the aorta becomes so weak that it breaks. But your cardiologist can use an ultrasound machine to watch your aorta very carefully. She can treat you with medicines to slow down the enlargement, and your chest surgeon can even replace your aorta if necessary. ...Read more

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Should I be concerned if my mum has arnold chiari syndrome I trying 2 find out what the average life expectancy is for people with this?

Should I be concerned if my mum has arnold chiari syndrome I trying 2 find out what the average life expectancy is for people with this?

Chiari: It needs to be monitored with scans especially if she has chairi symptoms. This could be congenital as well. As long as it stable, and she is asymptomatic, it does not cause any problems
should consult neurosurgeon and neurology. ...Read more

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What's the life expectancy of a person with fragile x syndrome?

What's the life expectancy of a person with fragile x syndrome?

Normal unless: Most patients with fragile x are otherwise normal except for mild learning and behavioral problems. Occasional cases may suffer seizures and some can have other medical problems. The life expectancy is based on the other medical problems - not the diagnosis of fragile x. ...Read more

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F/u q: the dementia is wernicke-korsakoff syndrome (alcohol induced). Dx'd mid-2010, now late stage, what is development rate? Life expectancy?

F/u q: the dementia is wernicke-korsakoff syndrome (alcohol induced). Dx'd mid-2010, now late stage, what is development rate? Life expectancy?

No telling: It's hard to predict what course it will take. It will depend on a lot of factors such as general health, whether he continues alcohol consumption or not and comorbidities. People usually don't die from dementia itself but rather from other complications such as pneumonia, urinary tract infections, fractures, heart issues to name a few. ...Read more

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What is the average life expectancy for men?

What is the average life expectancy for men?

Life expectancy: Go to CDC data base for this. Need age now and ethnicity and do you live in stroke belt or not? ...Read more