Differentiating Friedreich's ataxia from other neurological disorders
Sub Subramony, MD, discusses how we can differentiate neurological conditions that are commonly misdiagnosed as Friedreich’s ataxia.
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
The majority of patients with Friedreich’s ataxia have onset in childhood, either around the age of 10 — 9, 10, 11 — though there is a substantial proportion that will have onset after the age of 25. Maybe about 15 or 20% of these patients will have late-onset Friedreich’s ataxia.
So if you look at children with Friedreich’s ataxia, the major problem is one of balance, losing their skills to run and play and participate in sports, things like that.
There are a number of other neurological conditions and other types of medical illnesses that are more common than Friedreich’s ataxia.
For example, some of the most common misdiagnoses in large series of patients with Friedreich’s ataxia included another disorder called Charcot-Marie-Tooth disease. And another disorder that has been mistaken or at least considered in these patients before the right diagnosis is made is cerebral palsy.
In addition to that, of course, since these children, one of the earlier symptoms is loss of balance, we all know that children develop — you know, the development of children’s motor skills is quite variable. There are many children who are considered somewhat clumsy, so a lot of times early on in the development of this disease, the physician is likely to say, “Hey, this child is just being clumsy and things are going to get better.”
So that happens a lot. Certainly, there are other disorders, spinal cord disorders, many developmental disorders of the spine, for example, can give you a clinical picture that looks like Friedreich’s ataxia.
And then there are a whole host of other genetic disorders that also cause ataxia, but those are much rarer than Friedreich’s ataxia.
So in summary, you have to differentiate Friedreich’s ataxia from other neurological diseases like Charcot-Marie-Tooth disease, cerebral palsy, and spinal cord diseases that can occur in children, but also separated from normal developmental problems that often delay some children acquiring good motor skills and perhaps some orthopedic problems.
So all these are in the differential diagnosis of Friedreich’s ataxia.
David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.