Biggest barriers to an early Friedreich's ataxia diagnosis
Susan Perlman, MD, discusses the biggest barriers to an early Friedreich’s ataxia diagnosis and how to address them.
About Susan Perlman, MD
Susan Perlman, MD, is a clinical professor of neurology and the director of the Ataxia Center at the UCLA Medical Center in Los Angeles. Her specialty is ataxias, including Friedreich’s ataxia. She is also the director of clinical trials in UCLA’s Program in Neurogenetics and sits on the Medical and Research Advisory Board at the National Ataxia Foundation.
Transcript
The biggest barriers to an early diagnosis in the first few months is recognizing that there is a progressive problem going on, that it’s not just a kid who’s a little clumsy or somebody going through a growth spurt, but there’s actually a balance problem that is going on. The parents may not recognize it right away. The school may not recognize it right away. And the pediatrician may not recognize it right away.
David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.