General Information About Joubert Syndrome
Disease Details and Frequently Asked Questions
It is a congenital and hereditary syndrome caused by the incomplete development in the womb of the cerebellar tissue (cerebellar vermis) located in the lower back of the brain, which maintains balance.
It is the most important gold standard in the diagnosis of the disease. It refers to the condition where the cross-sectional image of the underdeveloped brainstem and cerebellar pathways on a brain MRI resembles a 'molar tooth'.
Infants exhibit severe muscle weakness (hypotonia), delays in motor skills like walking/sitting, ataxia (loss of balance), involuntary eye movements (nystagmus), and intellectual disability.
Especially in the neonatal period, the baby's breathing becomes abnormal. Episodes of very rapid breathing (hyperpnea) for a short period followed by a pause in breathing (apnea) are experienced.
It is diagnosed by the 'molar tooth' sign on a Cranial MRI taken when clinical findings raise suspicion. Since various gene mutations (e.g., AHI1) play a role, genetic DNA testing is also performed.
There is no medical treatment to repair the cerebellar tissue. The goal of treatment is to aid the baby's development. Respiratory monitoring, physical therapy starting at an early age, special education, and tracking of eye problems determine the quality of life.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
