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Neuromyelitis Optica

What is Neuromyelitis Optica?

Neuromyelitis optica (NMO) – previously called Devic's disease – is a rare autoimmune disease affecting the central nervous system – CNS – that causes inflammation of the optic nerves – optic neuritis – and the spinal cord – acute transverse myelitis. Neuromyelitis optica can cause blindness, paralysis, sensory loss below the lesion, digestive problems (sphincter impairments), bowel/bladder problems, and muscular spasms. The causes are not entirely known, but it is thought that the immune system attacks the aquaporin-4 protein on cells in the CNS. Neuromyelitis optica is often misdiagnosed as multiple sclerosis. 

 

Neuromyelitis optica (NMO) – previously called Devic's disease – is a rare autoimmune disease affecting the central nervous system – CNS – that causes inflammation of the optic nerves – optic neuritis – and the spinal cord – acute transverse myelitis. Neuromyelitis optica can cause blindness, paralysis, sensory loss below the lesion, digestive problems (sphincter impairments), bowel/bladder problems, and muscular spasms. The causes are not entirely known, but it is thought that the immune system attacks the aquaporin-4 protein on cells in the CNS. Neuromyelitis optica is often misdiagnosed as multiple sclerosis. 

Acknowledgement of Neuromyelitis Optica has not been added yet.

The worldwide prevalence of neuromyelitis optica is thought to be approximately 1 to 3 individuals per 100, 000. Some believe that the prevalence can be as high as 5 per 100, 000. According to worldwide reports, female to male ratios range from 2:1 to 10:1. Moreover, up to 90% of relapsing NMO patients are women. However, men are more commonly affected by the rarer monophasic form of the disease.

Synonyms for Neuromyelitis Optica has not been added yet.

The exact causes of Neuromyelitis optica are unknown. The immune system – specifically NMO-IgG antibodies and immune cells targeting AQP4 – attack the supportive cells in the brain called astrocytes. This immune response is distinct from MS, in which the immune response targets the myelin sheath. When antibodies bind to the aquaporin-4 protein, they trigger a cascade of immune processes ultimately leading to damage (such as the loss of the myelin sheath) which can be permanent. 

Up to 50% of individuals with the disease have a family history of many different types of autoimmune disease, but less than 3% of individuals who have a family history of Neuromyelitis optica specifically.

The median age of onset is 39 years, however, the disease may also occur in children and in the elderly.

Optic neuritis, or myelitis may present themselves as the first symptom.

The optic neuritis may occur in only one eye, but quite often it occurs in both. Pain and loss of vision are usually the first symptoms of optic neuritis.

The myelitis affects sensory, autonomic, and motor functions below a certain point on an individual’s body. This usually results in pain in limbs, paralysis, diminished reflexes, loss of bowel/bladder control, and sensory loss.  

The main symptoms of Devic's disease are due to loss of vision and spinal cord function. Optic neuritis may manifest as visual impairment with decreased visual acuity, although visual field defects, or loss of color vision may occur in isolation or prior to formal loss of acuity. Spinal cord dysfunction can lead to muscle weakness, reduced sensation, or loss of bladder and bowel control.

Neuromyelitis optica can cause spastic weakness, and individuals suffering can often experience recurrent relapses.

Diagnosis is made using a set of clinical criteria that starts with presence of the AQP4 antibody. Patients who test positive for this antibody in the context of either ON or TM are diagnosed with NMO. Those who test negative for the antibody have to meet a more rigorous set of criteria to make sure seronegative (a negative result based on a test of blood serum) NMO is the correct diagnosis.

It is important to distinguish Neuromyelitis optica from MS during the diagnostic process as the two may present very similar symptoms. This can be done using MRI and finding long lesions on the spinal chord over several vertebral segments. Also, the AQP4 antibody is not found in NMO.

It is advised to request a test for neuromyelitis optica if an individual believes that are displaying symptoms as there are tests – such as the blood test described in the next section – which can be positive when the first symptoms appear.

There are many tests used for diagnosis. These include: blood tests, spinal taps, examination of cerebrospinal fluid, MRI imaging, and CAT scans. 

Specifically for blood tests which are testing the NMO-IgG levels in the blood (which is the most sensitive and specific blood test) can detect antibodies that are specific for the aquaporin-4 protein (AQP-4) and can give a positive result in 80% of patients by the time the first symptoms appear; however, it should be underlined, that 10%±25% of NMO patients are seronegative for AQP4-IgG.

There is no cure for neuromyelitis optica, and as a result the only possibility is to treat the symptoms. Attacks specifically are treated with high doses of intravenous corticosteroids – i.e. methylprednisolone IV – for a short period of time. If the corticosteroids do not have an effect then plasmapherisis may be used, however, this is only supported by small and unregulated clinical trials – although they do report high levels of success.

For long term prevention immune suppressive drugs are sometimes used, such as azathioprine, azathioprine with oral prednisone, mitoxantrone, immunoglobulin IV, rituximab and mycophenolate mofetil. However no controlled clinical trials exist for the use of immune suppressing drugs, but there are currently 3 worldwide phase III trials underway. More research will be needed to determine the effect of immunosuppressing drugs.

The prognosis varies. Some individuals recover from specific relapse – although some do not – but the neurological effects build up, and can have a severe effect. 85% of individuals with the disease have recurring relapses.

The five-year survival is 90% in monophasic patients and 68% in relapsing ones. In the second group, deaths are typically due to respiratory failure.

Many individuals will have sight problems, and may be left blind in one or both eyes. Recurrent relapses may lead to permanent paralysis.

The effects of early intervention are not fully known, but it is believed that the amount of attacks an individual experiences will be reduced by 50%.

Take all medications prescribed, and continuously monitor your health. Find support groups where individuals with the disease can talk about their experiences. 

MalaCards. (2016). Neuromyelitis optica. Retrieved from 

http://www.malacards.org/card/neuromyelitis_optica?search=Neuromyelitis+optica.

Wikipedia Foundation. (16 March 2016). Neuromyelitis optica. Retrieved form https://en.wikipedia.org/wiki/Neuromyelitis_optica.

Mayo Clinic Staff. (19 Sept 2015). Neuromyelitis optica. Retrieved from http://www.mayoclinic.org/diseases-conditions/neuromyelitis-optica/basics/definition/con-20036360.

Weinshenker. B., Wingerchuk. D. (February 2009). Neuromyelitis optica. Retrieved from 

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=71211.

NIH. (February 23, 2016). NINDS Neuromyelitis Optica Information Page. Retrieved from 

http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm

Weinshenker. B. (2015). Neuromyelitis optica. Retrieved from 

http://rarediseases.org/rare-diseases/neuromyelitis-optica/.

Where are you from? Created by Trista
Last updated 27 Oct 2011, 03:59 AM

Posted by Trista
27 Oct 2011, 03:59 AM

Rhonda, This is the first I have heard. What is it? But no, with two little ones and not missing school there is no way on short notice.

Posted by KarenAL
24 Oct 2011, 07:18 AM

I am from a small town about an hours north of the Gulf of Mexico.. actually, to better suit locales and such, I'm north of Mobile, AL.

Posted by Rhonda
20 Oct 2011, 09:09 PM

Will you be able to make it to the Guthy-Jackson Patient Day next month? I was given a travel grant that covers my air & hotel.

View Full Thread (1 more posts)
Medications Created by Trista
Last updated 24 Oct 2011, 07:07 AM

Posted by KarenAL
24 Oct 2011, 07:07 AM

Trista, Hello there lady! I have tried a few things... mostly medications to treat symptoms. I had been successful using IVSM (IV SoluMedrol) until about a month ago. I had/have a major flare up going on causing horrible optic nerve pain. While, the IVSM helped soothe the optic nerve (for the most part), it did nothing else. I'm usually able to see a huge difference in my daily life and this time I didn't. So, the neurologist that I'm seeing (hopefully only for a short time longer) has suggested we try IVIG (Intravenous immunoglobulin). So, I'm in the process of waiting for Medicaid to hopefully approve me. If not, then, I will fight for it. I know how to do that (my husband and I both went to medical assisting schooling). Other than that.. like I said, it's all a symptom management thing.

Posted by Trista
20 Oct 2011, 07:54 PM

What medications are you on or have you tried? How is it or did it work? Any side effects positive or negative from them? Any tips to survive the side effects? Please assume I am stupid and don't know the short hand for the names. I have tried the immuran and anti viral combo, and rotuxin, both with no positive results. Right now I am on metheltrexate and folic acid, still waiting to see if it works. I respond well to the iV methelprednisolone, but we are trying to move me to the oral prednisone instead. Every time I try to go off the steroids I have a flair-up and land back in a wheelchair. Then have to start the healing process over again and so I want to know what others have done.

Community External News Link
Title Date Link
Community Resources
Title Description Date Link
Guthry-Jackson Charitable Foundation

The Guthy-Jackson Charitable Foundation is dedicated to funding basic science research to find answers that will lead to the prevention, clinical treatment programs and a potential cure for Neuromyelitis Optica (NMO) Spectrum Disease.

03/20/2017
Neuromyelitis Optica UK Specialist Services

Neuromyelitis Optica UK Specialist Services

 

The NHS National Specialised Commissioning Team in the UK has acknowledged NMO as a rare neurological condition that requires specialist expertise and has funded: The Walton Centre in Liverpool, and John Radcliffe Hospital at Oxford.

 

 

These two centres will develop a UK diagnostic and advisory service, do active research and  collaborate with national and international groups working on NMO to raise awareness and improve the UK service to people affected by NMO.

 

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Created by Trista | Last updated 27 Oct 2011, 03:59 AM

Medications

Created by Trista | Last updated 24 Oct 2011, 07:07 AM


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