NMOSD has a heterogenous presentation, potentially complicating diagnosis1
Initial presentation typically includes 1 or more hallmark clinical features in the optic nerve, spinal cord, and/or the brain or brain stem1
~50% of cases involve transverse myelitis1
Common debilitating symptoms associated with transverse myelitis include2,3
- Lhermitte’s phenomenon
- Intractable pain
- Bladder and bowel dysfunction
- Weakness and paralysis
- Loss of sensation
- Paroxysmal tonic spasms of the trunk and limbs
~35% of cases involve optic neuritis1
Common debilitating symptoms associated with optic neuritis include2,3
- Ocular pain
- Unilateral and bilateral loss of visual acuity, leading to blindness
~10% of cases involve transverse myelitis & optic neuritis1
~4% of cases involve area postrema syndrome, cognitive impairment, or respiratory failures1-3
Symptoms with brain and brain stem involvement include2,4
- Nausea
- Vomiting
- Intractable hiccups
The path from initial presentation to diagnosis can take years7
Though often first encountered in the ER or by a PCP, correct diagnosis and ongoing care may involve multiple specialties8
Time to first maintenance
treatment can be up to 11 years7
ER, emergency room; PCP, primary care provider.
References
- Mealy MA, Wingerchuk DM, Greenberg BM, Levy M. Epidemiology of neuromyelitis optica in the United States: a multicenter analysis. Arch Neurol. 2012;69(9):1176-1180.
- Sellner J, Boggild M, Clanet M, et al. EFNS guidelines on diagnosis and management of neuromyelitis optica. Eur Neurol. 2010;17:1019-1032.
- NORD rare disease database. Accessed November 21, 2022. https://rarediseases.org/rare-diseases/neuromyelitis-optica/
- Shosha E, Dubey D, Palace J, et al. Area postrema syndrome: frequency, criteria, and severity in AQP4-IgG–positive NMOSD. Neurology. 2018;19:e1642-e1651.
- Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015;85:177-189.
- Xu Y, Ren Y, Li X, et al. Persistently gadolinium-enhancing lesion is a predictor of poor prognosis in NMOSD attack: a clinical trial. Neurotherapeutics. 2021;18:868-877.
- Beekman J, Keisler A, Pedraza O, et al. Neuromyelitis optica spectrum disorder: patient experience and quality of life. Neurol Neuroimmunol Neuroinflamm. 2019;6:1-14. doi:10.1212/NXI.0000000000000580
- Delgado-Garcia G, Lapidus S, Talero R, et al. The patient journey with NMOSD: from initial diagnosis to chronic condition. Front Neurol. 2022;13:1-10. doi:10.3389/fneur.2022.966428
- Borisow N, Mori M, Kuwabara S, Scheel M, Paul F. Diagnosis and treatment of NMO spectrum disorder and MOG-encephalomyelitis. Front Neurol. 2018;9:1-9. doi:10.3389/fneur.2018.00888
- Hamid SHM, Whittam D, Mutch K, et al. What proportion of AQP4-IgG-negative NMO spectrum disorder patients are MOG-IgG positive? A cross sectional study of 132 patients. J Neurol. 2017;264:2088-2094.