By Glenn S. Williams
In this year’s Rare Neurological Disease Special Report, we focus on rare neurological diseases that have new therapies that have been recently approved as well as conditions for which the treatment pipeline is robust.
A Note From NORD
By Pamela Gavin
Through NORD’s collaboration with Neurology Reviews, we share cutting-edge research and insights from leading medical experts, including specialists from the NORD Rare Disease Centers of Excellence network, about the latest advances in the treatment of rare neurological conditions.
Genetic Testing for ALS, Now a Standard, Creates a Path Toward Individualized Care
By Ted Bosworth
Overall, there is a sense of progress in ALS. The hope is that clinical research is reaching a tipping point where targeted treatments may offer hope to patients with ALS.
Myasthenia Gravis: Patient Choice, Cultural Change
By John Jesitus
Used appropriately, newer treatments for myasthenia gravis can provide dramatic results faster and more safely than broad immunosuppressants.
Promise for Disease-Modifying Therapies to Tame Huntington’s Disease
By Neil Osterweil
Much progress has been made in managing the symptoms of Huntington’s disease, but the real excitement lies in the development of disease-modifying drugs and genetic therapy.
Diagnosing and Managing Duchenne Muscular Dystrophy: Tips for Practicing Clinicians
By Batya Swift Yasgur, MA, LSW
Healthcare providers should be familiar enough with Duchenne muscular dystrophy to provide timely diagnosis and early intervention as well as practical and emotional support to the patient and family/caregivers.
Neuromyelitis Optica: Historically Misdiagnosed — Now Demands Prompt Treatment
By Kate Johnson
Rapid diagnosis and treatment of NMO “means potentially preventing future devastating neurologic injury.”
Untangling CIDP
By Jennie Smith
Though a preferred biomarker remains elusive, this difficult-to-diagnose neuropathy has seen important recent advances in diagnosis and treatment.
Newborn Screening Programs: What Do Clinicians Need to Know?
By Batya Swift Yasgur, MA, LSW
The goal of newborn screening is to identify babies with genetic disorders who otherwise have no obvious symptoms.
Balancing Act: Weighing the Pros and Cons of Genetic Testing in Rare Diseases
By Frieda Wiley
While genetic testing may offer great potential for providing answers to patients and clinicians seeking insight into a rare disorder, the technology holds some pros and cons that neurologists should be aware of.