Subscribe for daily wellness inspiration

Like onlymyhealth on Facebook!

What is the treatment of Joubert Syndrome?

By  ,  Onlymyhealth editorial team
Aug 22, 2014
4.8 / 5(4 Ratings)
Quick Bites

  • Many parts of the body can be affected by the syndrome.
  • The symptoms can vary among individuals.
  • Abnormal development of brain takes place.
  • The treatment is usually symptomatic and supportive.

More

What is Joubert Syndrome?

Joubert syndrome is a condition in which many parts of the body can get affected. The symptoms of this syndrome can vary among individuals. However, the most prominent feature of this syndrome is a brain abnormality which is known as molar tooth sign that can be visible during the various tests conducted on the brain like, magnetic resonance imaging (MRI). This sign shows up as a result of abnormal development near the backside of the brain known as cerebellar vermis and the brainstem. The name molar tooth was given because the abnormalities in the brain are identical with the cross-section of a molar tooth.

Joubert Syndrome Treatment

How Common is the Syndrome?

The syndrome has affected approximately between 1 in 80,000 and 1 in 1,00,000 infants. These figures may be higher because there are many possible features of the syndrome which are most likely to remain undiagnosed.

How is Joubert Syndrome Inherited?

The syndrome usually has an autosomal recessive pattern of inheritance. This implies that both the copies of a gene in each cell have mutations. When the parents of an infant have an autosomal recessive condition, each one carry a copy of the mutated gene. However, none of them shows the signs and symptoms of the syndrome.

Joubert Syndrome Treatment

How can it be Treated?

The treatment of Joubert syndrome is usually symptomatic and supportive. Infant stimulation and physical, speech and hearing therapy may help some of the patients. Infants who suffer from abnormal breathing problems must be kept under observation.

Image courtesy: Getty Images

Read more on Joubert Syndrome Treatment.

Related Articles
  • What is Joubert Syndrome?What is Joubert Syndrome?

    Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination.

    read more
  • What are the symptoms of Joubert Syndrome?What are the symptoms of Joubert Syndrome?

    The most common symptoms of Joubert syndrome in infants include abnormally rapid breathing, decreased muscle tone, jerky eye movements, mental retardation, and the inability to coordinate voluntary muscle movements.

    read more
4.8 / 5(4 Ratings)
Write a Review
Post a Comment
Disclaimer +
Though all possible measures have been taken to ensure accuracy, reliability, timeliness and authenticity of the information; Onlymyhealth assumes no liability for the same. Using any information of this website is at the viewers’ risk. Please be informed that we are not responsible for advice/tips given by any third party in form of comments on article pages . If you have or suspect having any medical condition, kindly contact your professional health care provider.