Diagnosis of Neuromyelitis Optica Spectrum Disorder

Neuromyelitis optica spectrum disorder is a central nervous system autoimmune disease that primarily targets the optic nerves and spinal cord, with clinical manifestations such as sudden vision loss and limb paralysis. Without early diagnosis and treatment, the condition can progress rapidly, leading to irreversible neurological damage, including blindness or paralysis in severe cases. At present, comprehensive judgment based on neuroimaging, cerebrospinal fluid analysis, and serum antibody testing is required to confirm diagnosis.

Diagnostic Basis

1. Clinical presentation features

Neuromyelitis optica spectrum disorder often begins with sudden vision loss in one or both eyes, frequently accompanied by eye pain. As the disease progresses, some patients may experience lower limb weakness, sensory disturbances, and urinary or bowel dysfunction. Recurrent attacks with incomplete recovery are key clinical features of this disease.

2. Imaging examination support

Magnetic resonance imaging (MRI) is an important diagnostic tool. Spinal cord MRI often reveals longitudinally extensive hyperintense lesions involving three or more vertebral segments. Optic nerve MRI shows optic nerve swelling and abnormal enhancement. Imaging helps distinguish NMOSD from multiple sclerosis and other conditions.

3. Serum AQP4 antibody testing

Detection of serum aquaporin-4 antibodies (AQP4-IgG) is a crucial diagnostic basis. Most patients test positive, and the presence of these antibodies has high specificity, distinguishing NMOSD from other central nervous system demyelinating diseases. It is one of the internationally recognized diagnostic markers.

4. Cerebrospinal fluid analysis

Some patients show mild pleocytosis and elevated protein levels in cerebrospinal fluid, but oligoclonal bands are rarely positive—unlike multiple sclerosis. This characteristic aids diagnosis and helps exclude other possible diseases.

5. Attack patterns and disease course observation

The disease typically presents as relapsing-remitting or a single severe attack followed by continuous progression. Relapse intervals are often short, with slow or incomplete recovery. Repeated relapses tend to leave neurological deficits, making disease course observation valuable for assessment.

6. Differential diagnosis

NMOSD must be differentiated from multiple sclerosis, acute disseminated encephalomyelitis, optic neuropathy, and central nervous system involvement related to systemic lupus erythematosus. Comprehensive analysis of clinical manifestations, imaging features, and antibody test results is essential.

7. Individualized assessment and follow-up

Considering patient age, sex, onset pattern, and medical history helps determine whether the condition is typical NMOSD or related disorders such as MOG antibody-associated disease. After diagnosis, regular follow-up is necessary to assess relapse frequency and neurological function, and to adjust treatment plans.

Conclusion

Experts at United Life International Medical Center state that if NMOSD can be diagnosed early and treated systematically, most patients can effectively control the disease and delay neurological damage. It is recommended that high-risk individuals seek prompt professional medical evaluation when experiencing suspected symptoms to obtain an accurate diagnosis.