Publication date: Jul 09, 2019
The author of those words is George Huntington, the physician credited with defining the disease that carries his name, Huntington’s Disease, a genetic, invariably fatal, neurologic disorder.
In individuals unaffected by Huntington’s, the repeat occurs less than twenty-six times.
As the repeats increase, an individual is more likely to experience the symptoms of Huntington’s Disease.
Unlike other genetic diseases, which present more frequently in infants or children, the age of onset for Huntington’s is in the 30’s, long after many individuals have become parents and passed the genetic risk to their children.
Accurate diagnostic testing is only 25 years old, a blood test to characterize the number of repeats in the Huntington gene.
In the time before a reliable test was available, many individuals at risk, in the 70-90% range were interested in testing.
Part of the answer may come from a study of participants in this study who choose not to know their Huntington’s Disease (HD) status.
The study enrolled asymptomatic patients with a 50% risk of developing HD, the primary goal of the study was to ascertain whether some constellation of early symptoms and signs might alert physicians.
Slightly more than half anticipated treatment to improve symptoms or postpone the onset of the disease within the next 10 years; more -certain” as to improving symptoms than preventing HD’s onset.
In the meantime, the study should serve as a reminder to us all, physicians and patients, that medicine remains a practical art and that emotions, like hope and fear, sometimes play outsized roles.
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