Rare Disease Day: Expert Insights on Rare Neurological Diseases

In recent months, the NeurologyLive^® staff has spoken to a variety of experts in the clinical care and management of patients with a number of rare neurological diseases, including Dravet syndrome, generalized myasthenia gravis (gMG), neuromyelitis optica spectrum disorder (NMOSD), Lennox-Gastaut syndrome (LGS), amyotrophic lateral sclerosis (ALS), and more.

In celebration of Rare Disease Day, NeurologyLive^® compiled a number of these interviews with experts to offer an overview of the state of care and discussions on the hottest topics in these diseases. Those featured include:

• Emma Ciafaloni, MD, FAAN, professor of neurology and pediatrics, University of Rochester Medical Center
• Martina Bebin, MD, MDA, professor of neurology and pediatrics at the University of Alabama at Birmingham
• Timothy Miller, MD, PhD, codirector of the ALS Center at Washington University School of Medicine in St. Louis
• George Small, MD, adult neurologist at Allegheny Health Network
• Bruce Cree, MD, PhD, MAS, FAAN, clinical research director of the UCSF Multiple Sclerosis Center

For more coverage of rare neurological disorders and diseases, check out the NeurologyLive neuromuscular clinical focus page and epilepsy clinical focus page.

Click through the slides below to check out each expert interview:

Click the image to view more, or click the arrows to see the next slide.

Newborn Screening for Earlier Diagnosis of Duchenne Muscular Dystrophy

WATCH TIME: 4 minutes

Currently, there are therapeutic strategies for patients with Duchenne muscular dystrophy (DMD) to restore dystrophin and retain the protein function. As the development for therapies for patients with DMD continues to evolve and become more accessible, there is also the need for better outcome end points in the nonambulatory population, such as those related to quality of life. The ambulatory population has been known for having the best chance to demonstrate a drug effect, hence the most of the progress being made in that group. In the future, as the development of treatments continue to progress, the goal is to develop better end points for the nonambulatory population.

Emma Ciafaloni, MD, FAAN, professor of neurology and pediatrics, University of Rochester Medical Center, gave a talk at the 2022 American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) annual meeting, September 21-24, in Nashville, Tennessee, on the progression of new treatments for DMD. In a recent conversation with NeurologyLive®, she spoke on using newborn screening to help with earlier diagnosis of DMD, as there is a significant delay, and the need for more effective treatments.

Click here for more coverage of AANEM 2022.

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