Definition
Neuromyelitis optica spectrum disorders (NMOSD) affect the spinal cord and optic nerves (nerves that carry visual messages to and from the brain). Symptoms include pain, weakness, bowel and bladder problems, and temporary vision loss. NMOSD usually occurs in adulthood, but symptoms may start at any age. Some people have a single attack of symptoms lasting months, but in most people the symptoms come and go over time. People with NMOSD may develop permanent muscle weakness and vision loss. The cause of NMOSD is unknown. It occurs when the body’s immune system mistakenly attacks healthy cells in the spinal cord and eyes. It can be diagnosed by a clinical exam, MRI looking for specific signs, and blood tests looking for certain antibodies.
Although neuromyelitis optica spectrum disorder (NMOSD) was identified over a century ago, many people are unaware of it. Black people, in particular, need to be wary as it’s been found to affect them more than other ethnicities.
Symptoms
Symptoms of this disease may start to appear at a variety of ages.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
Symptoms related to this disease may affect different systems of the body:
- Autoimmune antibody positivity: The presence of an antibody in the blood circulation that is directed against the organism’s own cells or tissues.
- Functional abnormality of the bladder: Dysfunction of the urinary bladder.
- Myelitis: Inflammation of the spinal cord.
- Neuronal loss in the central nervous system: Synonyms: Loss of brain cells; Neuronal loss; Neuronal loss in CNS
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Ocular pain: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.
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Optic neuritis: Inflammation of the optic nerve.
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Paraplegia: Severe or complete weakness of both lower extremities with sparing of the upper extremities.
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Peripheral demyelination: A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
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Somatic sensory dysfunction: An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
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Visual loss: Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise, the term reduced visual acuity should be used (or a subclass of that).
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Abnormality of brain morphology: A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
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CSF pleocytosis: An increased white blood cell count in the cerebrospinal fluid.
Causes
According to the National Organization for Rare Disorders (NORD), more than 95 percent of patients with NMOSD report no relatives with the disease. However, approximately three percent report having other relatives with the condition.
There is also a strong association with a personal or family history of autoimmunity, which is present in 50 percent of cases, NORD notes.
NMOSD is an autoimmune disease, however, the exact cause for the autoimmunity is unknown.
Diagnosis
Building a medical team can help speed diagnosis and improve medical care. The primary care provider (PCP) is usually the center of the team. Your healthcare providers may refer you to other specialists for evaluation and treatment of developing symptoms. Your medical team may change as your medical needs change over time.
Understanding which doctors treat which body systems can help you find the best care for your disease.
- Primary care provider (PCP)
- Neurologist
- Ophthalmologist
Additional specialists may include:
- Allergist / Immunologist
- Cardiologist
- Dermatologist
- Endocrinologist
- Gastroenterologist
- Geneticist
- Hematologist
Once your healthcare provider gathers some basic information such as your medical history and any previous diagnoses, they will perform a physical exam.
During the physical exam, the health care provider will look for physical signs of a medical problem, such as pain and swelling or the presence of liquid or solid masses within the body. The methods used during the exam may differ, depending on the symptoms, but are common and routine procedures.
Depending on the information gathered and the results of the physical exam, your healthcare provider may recommend specific lab tests, such as a blood draw; imaging studies, such as an X-ray or MRI; or clinical procedures, such as a hearing test. If any of your symptoms worsen or change after your physical exam, it is important to follow up with your healthcare provider.