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How is Joubert Syndrome diagnosed?

See how Joubert Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Joubert Syndrome

Joubert Syndrome diagnosis
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Joubert syndrome is typically diagnosed by recognizing a constellation of brain malformations collectively referred to as the Molar Tooth Sign on a brain MRI. Early indicators could include abnormal breathing, low muscle tone, abnormal eye movements and feeding difficulties. Joubert syndrome also includes risk for Kidney, liver and Retinal involvement requiring annual follow up testing the function of these systems. Therapies are beneficial early on and throughout childhood for developmental delays
Posted Mar 6, 2017 by Brett 1120
Translated from spanish Improve translation
By means of a MAGNETIC RESONANCE imaging
Posted Aug 3, 2017 by Evelin 2000

Joubert Syndrome diagnosis

Joubert Syndrome life expectancy

What is the life expectancy of someone with Joubert Syndrome?

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Celebrities with Joubert Syndrome

Celebrities with Joubert Syndrome

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Is Joubert Syndrome hereditary?

Is Joubert Syndrome hereditary?

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Is Joubert Syndrome contagious?

Is Joubert Syndrome contagious?

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ICD9 and ICD10 codes of Joubert Syndrome

ICD10 code of Joubert Syndrome and ICD9 code

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Natural treatment of Joubert Syndrome

Is there any natural treatment for Joubert Syndrome?

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Living with Joubert Syndrome

Living with Joubert Syndrome. How to live with Joubert Syndrome?

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Joubert Syndrome diet

Joubert Syndrome diet. Is there a diet which improves the quality of life o...

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World map of Joubert Syndrome

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Stories of Joubert Syndrome

JOUBERT SYNDROME STORIES
Joubert Syndrome stories
THE GALE GIRLS
We have 5 adult children. 2 of our daughters have Joubert Syndrome. Suzie was born in 1981 and Nancy was born in 1986.  They are #2 and #3 in our family.  No one else on either side of our families have anything like Joubert Syndrome. 
Joubert Syndrome stories
JOUBERT SYNDROME CHILD WORK LIKE NORMAL CHILE
IN 2011 MY CHILD WAS SUFFERING FROM JOUBERT SYNDROME(aFTER DIAGNOSIS OF MRI) DOCTOR SAYS HE NEVER WALK /AND SPEAK. BUT IT IS COMPLETELY WRONG. MY CHILD IS NOW GOING TO SCHOOL HE IS IN CLASS ONE. ONLY DELAY PROBLEM. HE CAN DO EVERY THING BUT DELAY OF...
Joubert Syndrome stories
MI CAMINO CON JOUBERT
Tengo 55 años, desde 2014 fui considerado paciente con ataxia espinocerebelosa; hasta que en 2022 pude correr un panel genético, el cual por, costoso no había podido hacer. En dicho panel apareció el gen TMEM67 como heterozigoto para SdeJoubert. ...

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