A new genetic test for the diagnosis of periodic paralysis has been announced in the United States. The test will be free and will identify the bearers of this rare genetic disease.
The cause of many cases of hypocalemic periodic paralysis is in a mutation of SCN4A, CACNA1S and KCNJ2 genes. The new test allows you to analyze all three genes, so you can detect any anomalies in one or more of them. If successful, patients will also be able to evaluate a new Keveyis treatment.
The diagnosis of periodic paralysis is difficult for more than one reason. First of all, it is a rare genetic disease that affects about 4000 to 5000 people in the United States. In addition, its symptoms are short-lasting and changeable. It often happens that paralysis has passed before the family doctor is available for a visit. In addition, the symptoms may vary dramatically from patient to patient.
Patients with periodic paralysis have been ignored for a long time. That is why the genetic test could revolutionize the treatment of the disease. It will facilitate diagnosis and speed it up, which can be very long. The presence of a reliable genetic test will also help doctors. With the right information, they can provide all the support they need.
Because periodic paralysis is a genetic disorder, the diagnostic test will also be available for relatives of the patients who are diagnosed. In this way it will be easier to detect even silent cases.