Joubert syndrome is a rare congenital abnormality which involves the cerebellar vermis, a part of the brain responsible for coordination and the sense of balance. The severity of this condition varies, depending on whether the cerebellar vermis is partially malformed or entirely absent, and the condition can also be complicated by comorbidities, other conditions and abnormalities which may occur at the same time. Some cases are diagnosed in utero with the use of routine ultrasound screening, while others may be diagnosed after birth with medical imaging studies which can detect brain abnormalities.
Some cases of this syndrome appear to have a genetic connection. Families with a history of certain genetic conditions can be predisposed to Joubert syndrome, and this condition can appear in concert with an inherited disease. In other cases, it appears to be the result of a spontaneous mutation which interferes with the formation of the cerebellar vermis and the brain stem. Patients and families who are willing to be studied by geneticists can contribute valuable information to the study of this condition and other congenital abnormalities.
Jerky muscle movements, poor muscle control, muscle weakness, and rapid eye movements are symptoms of Joubert syndrome which are fairly common, because the malformed or absent cerebellar vermis directly involves the muscular system. Other symptoms can include seizures, tongue disorders, cleft palates, extra fingers and toes, kidney or liver problems, vision issues, or severe developmental disabilities. As a general rule, the more severe the malformation, the more serious the symptoms will be for the patient, and the more rapid diagnosis will be.
This syndrome cannot be cured, because it involves a congenital abnormality which cannot be corrected. However, it can be managed with the use of techniques to address various symptoms, such as surgery to correct cleft palates and physical therapy to develop muscle tone. Treatment will make the patient much more comfortable and improve quality of life, especially when supportive care is accompanied by parental advocacy throughout life.
Life expectancy for patients with Joubert syndrome is variable. More severe abnormalities can lead to sleep apnea and other conditions which can be life threatening, and children with severe forms may die early in life. Other people may go on to lead relatively normal lives of conventional lengths, especially if they are given attentive and proactive care. Parents should discuss life expectancy and options for sustaining life at the time of diagnosis.
