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Joubert Syndrome

Joubert Syndrome: Introduction

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

Treatments for Joubert Syndrome

Home Diagnostic Testing

Home medical testing related to Joubert Syndrome:

Wrongly Diagnosed with Joubert Syndrome?

Joubert Syndrome: Related Patient Stories

Joubert Syndrome: Complications

Read more about complications of Joubert Syndrome.

Causes of Joubert Syndrome

Read more about causes of Joubert Syndrome.

More information about causes of Joubert Syndrome:

Disease Topics Related To Joubert Syndrome

Research the causes of these diseases that are similar to, or related to, Joubert Syndrome:

Joubert Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Joubert Syndrome

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer' more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild concussion more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See misdiagnosis more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis more »

Joubert Syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Joubert Syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Joubert Syndrome: Animations

Prognosis for Joubert Syndrome

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

Statistics for Joubert Syndrome

Joubert Syndrome: Broader Related Topics

Joubert Syndrome Message Boards

Related forums and medical stories:

User Interactive Forums

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

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


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