Joubert Syndrome

Introduction: Joubert Syndrome

Joubert Syndrome: Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder ... more about Joubert Syndrome.

Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance. More detailed information about the symptoms, causes, and treatments of Joubert Syndrome is available below.

Symptoms of Joubert Syndrome

• Ataxia
• Hypernea
• Sleep apnea
• Abnormal eye movements
• Abnormal tongue movements

See full list of 32 symptoms of Joubert Syndrome

Wrongly Diagnosed with Joubert Syndrome?

• Underlying causes of Joubert Syndrome (possibly wrongly diagnosed)

Causes of Joubert Syndrome

Read more about causes of Joubert Syndrome.

More information about causes of Joubert Syndrome:

• Joubert Syndrome as a symptom

Treatments for Joubert Syndrome

• Symptomatic and supportive
• Infant stimulation
• Physical therapy
• Occupational therapy
• Speech therapy

See full list of 6 treatments for Joubert Syndrome

Videos for Joubert Syndrome

Patient Surveys for Joubert Syndrome

• Patient Profile Survey
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• Survey about the symptoms of your Joubert Syndrome
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Prognosis for Joubert Syndrome

Prognosis for Joubert Syndrome: Variable. Disability ranges from mild problems to moderate mental retardation.

More about prognosis of Joubert Syndrome

Statistics for Joubert Syndrome

• Medical statistics for Joubert Syndrome
• Prevalence and incidence statistics for Joubert Syndrome
• Death and Mortality statistics for Joubert Syndrome
• Society statistics for Joubert Syndrome

Stories from Users Related to Joubert Syndrome

• Can Anyone help??? Ive been to the doctors but nothing..
• Ive had enough of doctors.
• id like to know what ive got PLEASE HELP!
• IV site infection
• Unable to get an IV in arms.. Fem Stick required
• IV site swelling
• IV Complications
• Wrong Amount ministered through IV
• Ovarian Agenesis
• ive had this for a yr n half now :(
• cerebellar vermis atrophy
• IV Dye MRI test

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User Interactive Forums

Read about other experiences, ask a question about Joubert Syndrome, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
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Article Excerpts about Joubert Syndrome

Joubert syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. (Source: excerpt from NINDS Joubert Syndrome Information Page: NINDS)

Definitions of Joubert Syndrome:

Partial or complete absence of the cerebellar vermis, episodic tachypnea, neonatal apnea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap. Leber amaurosis (blindness with normal optic fundi and brain and kidney abnormalities) may be associated. - (Source - Diseases Database)

Joubert Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Joubert Syndrome, or a subtype of Joubert Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Joubert Syndrome as a "rare disease".
Source - Orphanet