Susan Perlman, MD, discusses the challenges of diagnosing Friedreich’s ataxia in atypical cases or when symptoms overlap with other conditions.

There are certainly other conditions that, in the beginning, can mimic the findings of Friedreich’s ataxia. Early-onset balance problems could appear with an ataxic cerebral palsy, could appear with late-onset Tay-Sachs, with other inborn errors of metabolism that target the cerebellum and may present with gait problems.

I think the most challenging ones are the ones that, there’s a feature of the Friedreich’s that is prominent early on — let’s say scoliosis — may be seen before the ataxia is appreciated. So an orthopedic physician might get involved first, and it might be a few months before the ataxia is recognized.

Similarly, there are rare cases of a young person presenting with cardiac involvement going to see a pediatric cardiologist, and again, the ataxia not being recognized for a few months.

So these atypical presentations in young people, if they’re recognized, then these other non-neurology healthcare providers could be educated to think about Friedreich’s in this setting.

Similarly, in the older patient with onset after the age of 25 or even older, if they present with a balance problem, there’s dozens of other conditions that can affect the cerebellum in an adult that are not Friedreich’s. And an adult neurologist may not think of a pediatric disease presenting in that adult population if they have retained reflexes, if they have spasticity.

So again, I think educating the neurology community about these atypical presentations will improve our diagnostic journey for these patients.