Kathleen Hawker, MD, Group Medical Director at Genentech, describes the symptoms of neuromyelitis optica spectrum disease (NMOSD) and how to diagnose this rare condition. 

NMOSD is a rare autoimmune disorder that targets the central nervous system, particularly the spinal cord and optic nerve. This causes blindness, muscle weakness, and paralysis. Other symptoms include: Optic neuritis, acute transverse myelitis, bladder and bowel control problems, and episodes of nausea and vomiting. Symptoms usually appear in adulthood, though they can occur at any point, and some – such as blindness – can occur quite suddenly.

The cause of NMOSD is unknown; however, many individuals with NMOSD have other autoimmune disorders as well. 

As Dr. Hawker emphasizes, NMOSD is often misdiagnosed as multiple sclerosis. It is therefore crucial for physicians to recognize the nuances between these disorders and do the appropriate tests before diagnosing individuals. Such tests may include MRI scans of the brain, spinal cord, and optic nerve, or blood tests for antibodies associated with NMOSD such as the AQP4 antibody.

There are currently a few FDA approved treatments for NMOSD such as eculizumab and inebilizumab, two intravenous infusion therapies. More recently, satralizumab, a subcutaneous treatment that can be self-administered, has been approved by the FDA for the treatment of adults with NMOSD.

For more information about NMOSD and other rare neurological conditions, visit checkrare.com/diseases/neurology.


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