Medicine & Research

NMO: The Deceiver - A Simple Diagnostic Test Unmasks MS Mimic

By Derek Blackway

Neuromyelitis optica (NMO) is an uncommon disease of the central nervous system that affects the optic nerves and spinal cord. Originally known as Devic’s Disease, NMO is often misdiagnosed as multiple sclerosis and until recently, NMO was thought to be a severe variant of MS. Recent discoveries indicate that NMO and MS are distinct diseases.

Like MS, NMO leads to loss of myelin and can cause attacks of optic neuritis and myelitis (inflammation of the spinal cord.) However, NMO is different from MS in the severity of its attacks and its tendency to solely strike the optic nerves and spinal cord at the beginning of the disease. Symptoms outside of the optic nerves and spinal cord are rare, although certain symptoms, including uncontrollable vomiting and hiccups, are now recognized as relatively specific symptoms of NMO that are due to brainstem involvement.

The recent discovery of an antibody in the blood of individuals with NMO gives doctors a reliable biomarker to distinguish NMO from MS. The antibody, known as NMO-IgG, seems to be present in about 70 percent of those with NMO and is not found in people with MS or other similar conditions.

NMO is most commonly characterized by inflammation of the spinal cord and/or optic nerves, causing any of the following symptoms: rapid onset of eye pain or loss of vision (optic neuritis); limb weakness, numbness, or partial paralysis (transverse myelitis); shooting pain or tingling in the neck, back or abdomen; loss of bowel and bladder control; prolonged nausea, vomiting or hiccups.

Traditionally, spinal cord lesions seen in NMO are longer than those seen in MS but this is not always the case. NMO physicians stress the importance for people diagnosed with MS to discuss these symptoms with their doctors to help consider NMO in their diagnoses. 

Historically, NMO was diagnosed in patients who experienced a rapid onset of blindness in one or both eyes, followed within days or weeks by varying degrees of paralysis in the arms and legs. In most cases, however, the interval between optic neuritis and transverse myelitis (partial paralysis) is significantly longer, sometimes as long as several years. After the initial attack, NMO follows an unpredictable course. Most individuals with the syndrome experience clusters of attacks months or years apart, followed by partial recovery during periods of remission.

This relapsing form of NMO primarily affects women. The female to male ratio is greater than 4:1. Another form of NMO, in which an individual only has a single, severe attack extending over a month or two, is most likely a distinct disease that affects men and women with equal frequency. The onset of NMO varies from childhood to adulthood, with two peaks, one in childhood and the other in adults in their 40s.

The cure for NMO remains unknown, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses. Doctors usually treat an initial attack of NMO with a combination of a corticosteroid drug (methylprednisolone) to stop the attack, and an immunosuppressive drug (azathioprine) for prevention of subsequent attacks.

If frequent relapses occur, some individuals may need to continue a low dose of steroids for longer periods. Plasma exchange (plasmapheresis) is a technique that separates antibodies out of the blood stream and is used with people who are unresponsive to corticosteroid therapy.

Pain, stiffness, muscle spasms, and bladder and bowel control problems can be managed with the appropriate medications and therapies. Individuals with major disability will require the combined efforts of occupational therapists, physiotherapists, and social services professionals to address their complex rehabilitation needs.

The task of solving a disease like NMO is undertaken by the National Institutes of Health or other national programs funding research. However, the U.S. classifies NMO as a rare orphan disease. According to Mayo Clinic neurologist Dean Wingerchuk, M.D., the prevalence and incidence of NMO have not been firmly established.

“It has a worldwide distribution and reported risk factors include females and non-Caucasian racial background,” says Dr. Wingerchuk. “Population-based studies of clinically diagnosed NMO have indicated prevalence rates from 0.32-4.4 cases per 100,000 population. In aggregate, the data suggests that there are likely more than 4,000 people with NMO in the United States, and possibly more than 10,000.” 

This means government or national funding is not assigned to researching NMO because not enough people in the U.S. have been diagnosed with this disease.

Devoted to a Cure - Guthy Jackson Charitable Foundation

The Guthy-Jackson Charitable Foundation was established to fund biomedical research in the search to understand the pathophysiology and biochemistry of NMO with the ultimate goal of discovering a cure.

“I’m a mom on a mission,” says Victoria Jackson, co-founder of The Guthy-Jackson Charitable Foundation (GJCF). Her mission? One of the most daunting tasks a mother could ever face: cure her daughter Ali of a rare neuro-immunologic disease called neuromyelitis optica.

Flash back to June 2008. Ali – an active, beautiful teenager – was leading a normal life filled with trips to the beach, horseback rides, and a family vacation. Shortly after the family trip, she started losing vision in her left eye and it progressively got worse. Victoria took her daughter to the doctor who then ordered a series of tests. He uncharacteristically included the NMO antibody test as a “just in case,” since NMO is believed to be so rare and was “nothing to worry about.” The test results came back NMO-IgG positive.  Ali had NMO. Victoria was told that her daughter could be blind, paralyzed, or both within five years.

“It came out of nowhere without any warning,” said Victoria.  “As a mother, I went into survival mode. I had to find the best care for my daughter.” 

Victoria was accustomed to meeting challenges and had achieved success as a Hollywood makeup artist, cosmetics entrepreneur (founder of Victoria Jackson Cosmetics), and TV infomercial pioneer. 

She started searching for doctors who specialize in NMO. However, simply locating an NMO doctor proved extremely difficult. She began reading every available piece of information about NMO. She searched for NMO support groups. She searched for NMO websites. Her search was exhausting, yielded little results and – worst of all – yielded little hope for a cure as there was also no public funding for research. That’s when she told herself, “It’s up to me. I have to assemble the best team of researchers and clinicians, and together we have to cure NMO.” 

Together with her husband Bill Guthy (of infomercial giant Guthy-Renker), Victoria founded the GJCF. It is dedicated to funding biomedical research in the search to understand the pathophysiology and biochemistry of NMO with the ultimate goal of discovering a cure.

The model is simple: all funded scientists must work together sharing their sensitive scientific research findings with each other. This is not standard protocol in the competitive academic world where individual recognition for scientific discovery reigns paramount.

In order to facilitate easier and faster collaboration, Victoria set up the GJCF Biorepository for NMO, where anyone with NMO is strongly encouraged to donate their blood multiple times over. Scientists use this cache of blood samples for their research. A nurse flies to donors anywhere in the contiguous U.S. to collect NMO blood samples.

The foundation hosts annual NMO Roundtable Conferences where the world’s top NMO scientists are specifically invited to share information in a private setting. Victoria also personally flies select NMO patients to attend the foundation’s Patient Day. It’s a rare opportunity for NMO patients to talk at length with NMO doctors and meet others who share their diagnosis.

The foundation has produced multiple informational videos that are available on its website to help anyone find out more about NMO.  Topics include the importance of distinguishing NMO from MS, effective drug treatments, insurance and rare diseases, and many more. Also, anyone affected by NMO is invited to join Spectrum, the foundation’s free online NMO community. 

Read more about NMO, Victoria Jackson and GJCF at:

Join the NMO community at:  

Derek Blackway is Communications Manager at The Guthy-Jackson Charitable Foundation

(Last reviewed 8/2012)