INTRODUCTIONS
Editor’s note
By Glenn S. Williams
2023 is indeed a noteworthy year. As you will read in this issue, it marks the 40th anniversary of the landmark Orphan Drug Act (ODA) and the formation of the National Organization for Rare Disorders. 2023 also marks the 30th anniversary of Neurology Reviews, the parent publication of the Rare Neurological Disease Special Report.
A note from NORD
By Edward Neilan, MD, PhD
The coalition of rare disease advocates who sparked rare disease advocacy and convinced lawmakers to pass the ODA in 1983 established NORD that same year to provide an ongoing, unified voice for the needs of the rare disease community.
Rare disease roundup
A look back at some of the 2023 rare disease headlines from Neurology Reviews.
CLINICAL REVIEWS
The Orphan Drug Act and NORD at their 40th anniversary: Dramatic achievements and ongoing innovation
By Batya Swift Yasgur, MA, MSW
The movement whose face is ODA and NORD continues to build its legacy. Next? Progress in rare disease care will require an all-in approach to solving a looming and massive public health challenge.
Emerging therapies in Duchenne and facioscapulohumeral muscular dystrophy
By Frieda Wiley, PharmD
Newly approved and investigational therapies, and enhanced diagnostics, are sparking optimism about treating MD – especially Duchenne and facioscapulohumeral types.
Has prompt diagnosis of amyotrophic lateral sclerosis become urgent?
By Ted Bosworth
Optimism is high about improving the survival and care of ALS patients. Neurologists who don’t specialize in ALS can add to the positivity by endorsing a role in speedier diagnostic pathways.
A new chapter for research on treating Huntington’s disease
By Jennie Smith
Setbacks in trials of protein-lowering therapies – mostly over their safety – mask a story of rapid advances and a more recently discovered treatment pathway that also offers promise for other diseases.
The dawning age of therapy for Friedreich ataxia
By Neil Osterweil
The first therapy to target the underlying pathology of Friedreich ataxia was approved in 2023. Other drug and genetic therapies are in the pipeline.
Stiff person syndrome: When a rare disorder hits the headlines
By Kate Johnson
Awareness of this disorder is increasing, but clinicians are challenged to apply the proper workup to avoid wrong turns in identifying affected patients.
Advances in testing and therapeutics are improving the lives of patients with Fabry disease
By Lorraine L. Janeczko, MPH
Thanks to robust research efforts, treatment options are expanding and patients are getting their diagnosis earlier – often, when they are presymptomatic and treatment has greater potential for enhancing quality of life.
Guillain-Barré syndrome: Honing treatment strategies
By John Jesitus
Classic subtypes of Guillain-Barré syndrome are varying manifestations of a shared disease process, novel insights into the disease indicate. This understanding is yielding new treatment strategies.