What is Joubert's syndrome?

Syndrome is a rare congenital abnormality that includes a cerebellar vermis, part of the brain responsible for coordination and a sense of balance. The severity of this condition varies depending on whether the brain vermis is partially malformed or completely missing, and the condition may also be complicated by co -morbidities, other conditions and abnormalities that may occur simultaneously. Some cases of Joubert syndrome are diagnosed in the uterus using routine ultrasonic screening, while others may be diagnosed after medical imaging studies that can detect brain abnormalities.

It seems that some cases of Joubert syndrome have a genetic connection. Families with a history of certain genetic states may be susceptible to Flabert's syndrome and this condition may occur in accordance with inherited disease. In other cases, it seems to be a spontaneous mutation that disrupts the formation of a cerebellar vermis amozkova stem. Patients and families who are OCHotni to be studied by geneticists, they can contribute valuable information to the study of Joubert's syndrome and other congenital abnormalities.

jerking muscle movements, poor muscles control, muscle weakness and fast eye movements are the symptoms of the Verart syndrome, which are quite common because malformed or absent brain vermis directly includes the muscle system. Other symptoms include seizures, tongue disorders, clefts, other fingers and fingers, kidney or liver problems, vision problems or severe developmental disabilities. In general, the more severe the malformation, the more serious the symptoms for the patient and the faster diagnosis will be.

Joubert syndrome cannot be cured because it involves congenital abnormality that cannot be corrected. However, it can be managed by means of technicies to solve various symptoms such as surgery to correct the cleft of palads and physical therapy to developMuscle tone. Treatment will make the patient much more comfortable and improve the quality of life, especially if supporting care is accompanied by parental defense throughout his life.

Life expectancy in patients with marker syndrome is variable. More serious abnormalities can lead to sleep apnea and other conditions that may be life -threatening, and children with severe Noubert syndrome can die early in their lives. Other people can continue to lead relatively normal live lengths of conventional lengths, especially if attentive and proactive care are given. Parents should discuss life expectancy and possibilities to maintain life at the time of diagnosis.