The importance of early diagnosis in Friedreich's ataxia
Sub Subramony, MD, discusses the importance of an early diagnosis in Friedreich’s ataxia, especially in light of advances in treatment that may have an impact in earlier stages of the disease.
About Sub Subramony, MD
Sub Subramony, MD, is a board-certified neurologist and neuromuscular medicine specialist at the Norman Fixel Institute for Neurological Diseases at University of Florida Health. He also serves as a professor in the University of Florida Department of Neurology with a joint appointment in pediatrics. His area of focus is genetic neuromuscular diseases, including Friedreich’s ataxia.
Transcript
We know that neurological disorders such as Friedreich’s ataxia are very slowly progressive and cause considerable damage to the neuronal circuitry.
And in general, in these disorders, providing an appropriate treatment — particularly neuroprotective treatment — before the occurrence of major damage to the nervous system is very important because, unlike many other tissues, neurological function depends on circuitry and connections. And once these are interrupted — even if you provide a very meaningful treatment — it may not be able to reconnect the nervous system for major functional recovery.
So the concept has come up that early diagnosis becomes very important when you have a specific treatment, especially a neuroprotective treatment, so that you can prevent further damage, stabilize the disease, and perhaps even lead to some recovery. And that’s the reason why we are particularly interested in early diagnosis.
Of course, in addition to that, of course, a precise diagnosis, which is possible with genetic testing in Friedreich’s ataxia, will stop … shopping around for diagnosis, which happens in many rare and obscure diseases.
David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.