These numbers are likely to change as MRIs become increasingly available. Chiari patients are born with the malformation, but symptoms often don't surface until later, manifesting themselves in childhood in only the most severe cases. Once a patient experiences symptoms and is diagnosed, treatment can begin. Not all cases advance to the stage where surgery is required, he added. If we can identify patients who are asymptomatic, they can be followed closely, leading to a better understanding of the natural history and earlier treatment if symptoms develop.
Early treatment tends to equate with better outcomes.
Exactly how the disease is passed down has not yet been determined. By establishing a familial aggregation, the report establishes that a volumetrically small posterior fossa can run in families just like other physical such as small feet, Dr. Milhorat said. If someone is diagnosed with Chiari, the report shows that there is a possibility that someone in their immediate family will test positive for Chiari or a related disorder. Researchers are in process of evaluating CTs and MRIs of Chiari patients and their families. Once the genetic patterns are established, the gene can be isolated and a simple blood test developed to screen patients.