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Neuromuscular diseases

Neuromyelitis optica spectrum disorder (NMOSD)

A disease in which the immune system attacks the optic nerve and the spinal cord. Attacks of vision loss, weakness and numbness occur.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Neuromuscular diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

In this disease, the immune system attacks tissues in the brain and spinal cord. The optic nerve becomes inflamed; this is called optic neuritis. The spinal cord also becomes inflamed; this is called myelitis. In most people, attacks come back months or years apart. Between attacks there is partial recovery.

Which symptoms can occur?

Symptoms come in attacks and vary from person to person.

  • Eye pain and rapid loss of vision, in one or both eyes
  • Weakness, numbness or paralysis in the arms and legs
  • Problems with bladder and bowel control
  • Hiccups that do not stop, nausea or vomiting
  • Sudden muscle spasms
  • Another immune disease at the same time (in about 1 in 4 people)

How is it diagnosed?

The history, a neurological examination and MRI are important for the diagnosis. The blood is tested for an antibody called AQP4. This antibody is found in about 7 in 10 patients. Sometimes the MOG antibody and fluid taken from the lower back are also examined.

Treatment and care

During an attack, high-dose cortisone treatment is given. If there is no response, plasma exchange may be done. This means cleaning the liquid part of the blood. Long-term treatment that suppresses the immune system is used to prevent new attacks. There are approved treatments specific to the disease for adults who have the AQP4 antibody. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

This disease is usually not inherited. Very few patients have the same disease in their family. Other immune diseases may be more common in the family. No specific pattern of inheritance is known. You can get genetic counselling if you have questions.

Source: MedlinePlus Genetics: Neuromyelitis optica · NORD: Neuromyelitis Optica Spectrum Disorder · Orphanet: Neuromyelitis optica spectrum disorder (ORPHA:71211)

Key facts

How common is it?
New cases per year: 1-9 per 1 000 000 (Worldwide) · Prevalence: 1-9 per 100 000 (Worldwide)
How is it inherited?
Multigenic / multifactorial
When does it usually start?
Adolescence, Adulthood, Childhood, Older age

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about NMOSD

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 47 active interventional studies for this disease. 22 are recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Neuromuscular diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:71211 · ICD-11 8A43

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.