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Joubert Syndrome – Causes and Symptoms of Joubert Syndrome

Joubert syndrome is a rare inherited disorder related to the brain. It is also called cerebelloparenchymal disorder IV or cerebellar vermis agenesis. The lower part of the brain is called cerebellum which has two interconnected hemispheres or halves. This part of the brain is very important for co-ordination and balance of the body’s activities. The connection between the two halves of the cerebellum is called cerebellar vermis that fails to develop in Joubert’s syndrome. Thus, it leads to unsteady or poorly uncontrollable movements. These unsteady movements are also called ataxia.

Joubert syndrome affects children during their birth itself as it is a genetic disorder. Depending on the extent of the cerebellum abnormalities, the severity of the condition varies in children.

Causes of Joubert Syndrome
Joubert syndrome has no specific cause. It is a genetic abnormality that is inherited through genes. It is an autosomal recessive condition. This means if both the parents carry the gene in any one of their chromosomes, there would be only 25% chance of passing on the condition to the child.

Symptoms of Joubert Syndrome
The signs and symptoms of Joubert syndrome are related to the abnormalities in the child’s co-ordination and balance. Symptoms may range from mild to severe depending on the severity of the cerebellum abnormality. The signs and symptoms include:

  • Jerking eye movements, called nystagmus
  • Episodes of rapid abnormal breathing, called episodic hyperpnea
  • Mental retardation
  • Drooping eyelids, called ptosis
  • Low-set ears
  • Difficult in coordinating voluntary muscle movements
  • Mouth opened with protruding tongue

Rare Symptoms include:

  • Cleft lip or palate
  • Heart defects
  • Polydactyly i.e presence of extra fingers or toes
  • Seizures

Diagnosis of Joubert Syndrome

  • The most striking symptom an infant suffers from Joubert syndrome is abnormal rapid breathing that is followed by stopped breathing for one minute (apnea). These symptoms are even observed in other disease conditions but Joubert syndrome doesn’t cause any lung problems as other disease conditions cause. Hence, this helps in diagnosing the disease condition.
  • MRI (Magnetic Resonance Imaging) scan is performed to detect the abnormalities in brain and thus, confirming the disease condition.

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