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Joubert Syndrome 7

Joubert Syndrome 7: Introduction

Joubert Syndrome 7: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 7 is linked to a defect on chromosome 16q12.2. More detailed information about the symptoms, causes, and treatments of Joubert Syndrome 7 is available below.

Symptoms of Joubert Syndrome 7

Treatments for Joubert Syndrome 7

Home Diagnostic Testing

Home medical testing related to Joubert Syndrome 7:

Wrongly Diagnosed with Joubert Syndrome 7?

Joubert Syndrome 7: Complications

Review possible medical complications related to Joubert Syndrome 7:

  • Sudden death due to irregular breathing pattern
  • Coma due to irregular breathing pattern
  • End-stage kidney disease - tends to develop during the first decade of life
  • more complications...»

Causes of Joubert Syndrome 7

  • The genetic anomaly is inherited in an autosomal recessive manner
  • more causes...»

More information about causes of Joubert Syndrome 7:

Less Common Symptoms of Joubert Syndrome 7

Joubert Syndrome 7: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Joubert Syndrome 7

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 sudden inability to speak. This was initially misdiagnosed as...read 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's...read 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 diagnosis. The condition goes by...read 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 mild traumatic brain injury (MTBI), for which the symptoms are...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson's disease or dementia ...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can occur in post-concussion...read 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...read more »

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

Joubert Syndrome 7: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Joubert Syndrome 7: Rare Types

Rare types of diseases and disorders in related medical categories:

Joubert Syndrome 7: Animations

Prognosis for Joubert Syndrome 7

Prognosis for Joubert Syndrome 7: The prognosis depends mainly on how much of the cerebellar vermis portion of the brain is missing - symptoms can vary from mild to severe. Irregular breathing patterns tend to improve after about a year though apnea usually persists.

Joubert Syndrome 7: Broader Related Topics

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