Nolan Townsend, Chief Executive Officer of Lexeo Therapeutics, discusses why diagnosis of Friedreich’s ataxia can be delayed and how the disease tends to progress.

Friedreich’s ataxia is a degenerative neuromuscular disorder caused by mutations in the FXN gene which reduces the production of frataxin, a protein important for proper mitochondrial functions. The onset of symptoms varies greatly among patients but generally occurs between the ages of 5 to 18 years. Some of the more common symptoms include ataxia, fatigue, scoliosis, diabetes mellitus, and various heart conditions, including hypertrophic cardiomyopathy and arrhythmias. 

Mr. Townsend notes that, like for many rare diseases, a diagnosis of Friedreich’s ataxia can take a long time. Additionally, he notes that there is a misconception that multiple forms of this disorder exist since the treatment landscape for it tends to be focused on improving neurological function or improving cardiac function. Rather than being two distinct forms, the presence of neurologic and/or cardiovascular symptoms are the result of the disease progressing. As Mr. Townsend explains, Friedreich’s ataxia reduces energy production in mitochondria and the brain and heart require the most energy and are thus heavily implicated in the disease. Mr. Townsend additionally notes that the neurologic symptoms tend to appear before the cardiac ones.

To learn more about Friedreich’s ataxia and other rare neurological disorders, visit checkrare.com/diseases/neurology