Sub Subramony, MD, discusses how to improve communication between primary care providers and Friedreich’s ataxia specialists to ensure timely referrals for suspected cases.

My opinion, with regard to children — especially who have some balance issues or clumsiness issues — primary care physicians, usually pediatricians, who are usually following these children for like a well-child annual exam or biannual examinations, often will tend to reassure parents because they don’t want to think about bad diseases. It’s traumatic to think about that.

But the trick here is for pediatricians to be aware that there are a number of these disorders that do have similar complaints. And to take the child as well as parents seriously when they complain about these illnesses and do a follow-up examination. So most benign conditions will not progress. The child is not going to lose function over a period of a few months or a year or so. So it’s important to do a follow-up.

A skillful neurological examination, of course, is of considerable value as well, because with a normal kind of clumsy child who is otherwise normal, neurological examination is going to be normal, whereas a child with phleodoxytexia will lose their deep tendon reflexes, for example, or have a detectable loss of sensation in the legs and the hands. So if pediatricians become comfortable about these neurological signs and if they detect them, they need to be — the child needs to be — referred to a child neurologist.

This also applies to orthopedic surgeons because a lot of times children with clumsiness — and also too, of note, is the fact that a lot of Friedreich’s children also have foot deformities like a pes cavus — and therefore these children often end up getting referred to an orthopedic specialty rather than a neurologist.

And it’s important for orthopedic surgeons to make sure that a child that is referred to them, either for a foot deformity or a spinal scoliosis, have a careful neurological examination to be sure that these are not related to an underlying neurological illness, such as Friedreich’s.

And the absence of reflex would be a major finding. Deep tendon reflexes will be a major finding in this regard. But about 20%, maybe 15%, have a later onset and those are adults, young adults, and these patients are often seen by internists and then referred to a regular neurologist.

And in that situation, it’s important for neurologists to remember that Friedreich’s remains a major diagnosis. It’s one of the common diagnoses. So they need to be looking for it. In that situation, actually, probably the disease that most commonly resembles it is multiple sclerosis. And of course MRI can help as well as genetic testing in that situation.