Doctor insights on:
Joubert Syndrome Life Expectancy
Is there a treatment for joubert syndrome. ..Can some provide more information on this. My siters son is affected with this syndrome.
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
rockville, md 20850
email: info@jsfrcd. Org
http://www. Jsfrcd. Org. ...Read more
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
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
Normal: Life expectancy should be normal. There are no effects that affect heart, or other major systems that would reduce life expectancy. ...Read more
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
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
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
Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more
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
Normal: These women appear no different from any other and have no special problems. ...Read more
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
Check out this site:
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
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
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
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
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
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
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
Genetic disorders: It would help if you would be specific about what your genetic disorder is. ...Read more
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
Unknown: It is not known if FAS affects life expectancy. ...Read more
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
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?
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
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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