Rare Disease Day: Updates on Rett Syndrome and Pompe Disease


In recognition of Rare Disease Day, the NeurologyLive® team offered an extensive update on the state of care and treatment for a few rare neurological diseases, including Pompe disease, Rett syndrome, among others.

Since 2008, the medical field has designated February 28 as Rare Disease Day, a day to honor patients with all varieties of rare diseases. The international celebration has been practiced since 2009, when the National Organization for Rare Disorders offered its hand in spreading the day to others, helping to get advocacy groups in the United States—and eventually around the world—to observe the day.

NeurologyLive® proudly works in partnership with several rare disease advocacy organizations—including the ALS Association, Cure SMA, the Dravet Syndrome Foundation, the Lennox-Gastaut Syndrome Foundation, the TSC Alliance, the Muscular Dystrophy Association —aiming to increase awareness and inform clinicians of the latest advances for these rare and challenging-to-treat disorders. In observance of Rare Disease Day, our team spoke with experts on the current state of care and treatment for a few rare diseases implicated in neurological care, including Pompe disease, Rett syndrome, among others.

Switch between the slides below to learn more about the progress in Rett syndrome and Pompe disease. For more updates on progress in rare diseases, check out our updates on Friedreich ataxia and myotonic muscular dystrophy.

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