touchEXPERT BRIEFING Why is an early diagnosis of generalised myasthenia gravis (gMG) and neuromyelitis optica spectrum disorder (NMOSD) important?
Watch this multidisciplinary discussion on the importance of overcoming challenges to establish an early and accurate gMG and NMOSD diagnosis
gMG: the importance of an early and accurate diagnosis
Prof. Saccà and Prof. Weber discuss the initial presentation of gMG, the patient journey from diagnosis, the importance and challenges of establishing an early, accurate diagnosis and implications of early diagnosis for burden of disease and treatment outcomes.
view bio and disclosures 1/2 Next InterviewNMOSD: the importance of an early and accurate diagnosis
Prof. Saccà and Prof. Weber discuss the earliest symptoms of NMOSD, potential barriers to a diagnosis, the consequences of delayed diagnosis and how an early, accurate diagnosis impacts disease burden and treatment options.
view bio and disclosures 2/2 Leave FeedbackOverview & Learning Objectives
Overview
Myasthenia gravis (MG) and neuromyelitis optica spectrum disorder (NMOSD) initially present with optical symptoms in the majority of patients.1–4 However, a range of challenges including attributing these symptoms to other conditions and variable disease presentation can lead to diagnostic delays,5–13 increasing the risk of disease progression in MG and further relapses in NMOSD.14–17 Therefore, early diagnosis is important for preventing the reduced quality of life associated with disease progression and relapses,18–20 and for early treatment intervention.21-23 In this activity, a neurologist and neuro-ophthalmologist discuss the presentation and patient journey for gMG and NMOSD, importance of early diagnosis and implications of an early diagnosis.
Learning Objectives
After watching this activity, participants should be better able to:
- Describe the disease presentation of gMG and NMOSD, and the typical patient journey from initial ocular signs and symptoms to diagnosis
- Outline the importance of early diagnosis of gMG and NMOSD including current criteria, and challenges to establishing an accurate diagnosis
- Discuss the implications of early diagnosis for burden of disease and treatment outcomes
Faculty & Disclosures
Prof. Francesco Saccà
University of Naples Federico II, Naples, Italy
Prof. Saccà is Associate Professor of Neurology at NSRO Department at the Federico II University of Naples, Italy. Prof. Saccà has his research focus on Myasthenia Gravis (RWE studies, international registries, clinical trials); Multiple Sclerosis (RWE studies, clinical trials, observational studies, neuropsychology); NMOSD (clinical trials); Ataxias (Neuroimaging, clinical trials, non-profit clinical trials, genetics); Migraine (pathogenesis). He participated in numerous clinical trials in Myasthenia Gravis, Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, Friedreich Ataxia, Spinocerebellar Ataxia type 2, Multiple System Atrophy, Parkinson’s Disease, Huntington’s Chorea.
Prof. Saccà discloses: Public speaking honoraria: Alexion, argenx, Biogen, Genpharm, Medpharma, Medison Pharma, Mylan, Neopharm Israel, Novartis, Roche, Sanofi and Zai Lab. Compensation for advisory boards: Alexion, Almirall, argenx, Astrazeneca, Avexis, Biogen, Dianthus, Lexeo Therapeutics, Novartis GmBh, Reata, Roche, Sandoz, Sanofi and Takeda. Consultation fees: Alexion, Dianthus, EPG Comunication Holding ltd, Medscape, PeerView and Vitaccess. Clinical trial principal investigator: Alexion, argenx, Dianthus, Immunovant, Lediant, Novartis, Prilenia, Remgen and Sanofi. Clinical Trial support: Almirall. Funding: Agenzia Italiana del Farmaco (AIFA), Associazione Italiana per la lotta alle Sindromi Atassiche (AISA), Freidreich Ataxia Research Alliance (FARA), Roche SpA and Tristan Allamby Research Fund (TARFfa).
Prof. Konrad Weber
University Hospital Zürich, Zürich, Switzerland
Prof. Weber is a Senior Physician at both the Department of Neurology and Department of Ophthalmology, as well as Supervisor at the Interdisciplinary Center for Vertigo and Neurological Visual Disorders at the University Hospital Zürich. He is a trained neurologist, certified in EMG, EEG and sleep medicine. He has been a lecturer in neuro-ophthalmology and neuro-otology since 2014. His research focus is on the development of diagnostic tests for patients with ocular motor and balance disorders based on eye movement measurements with state-of-the-art technology.
Prof. Weber discloses: Unpaid consultant and has received funding for travel from Otometric, a division of Natus. Principal investigator for research sponsored by Alexion Pharmaceuticals.
References
- Shuey NH. Ocular myasthenia gravis: a review and practical guide for clinicians. Clin Exp Optom 2022; 105(2): 205-13.
- Grob D, Brunner N, Namba T, et al. Lifetime course of myasthenia gravis. Muscle Nerve 2008; 37(2): 141-9.
- Beekman J, Keisler A, Pedraza O, et al. Neuromyelitis optica spectrum disorder: Patient experience and quality of life. Neurol Neuroimmunol Neuroinflamm 2019; 6(4): e580.
- Delgado-Garcia G, Lapidus S, Talero R, et al. The patient journey with NMOSD: From initial diagnosis to chronic condition. Front Neurol 2022; 13: 966428.
- Harrison P, Barton J, Winkel A. Chronic mimics of myasthenia gravis: a retrospective case series. Neuromuscul Disord 2023; 33(3): 250-6.
- Jarius S, Aktas O, Ayzenberg I, et al. Update on the diagnosis and treatment of neuromyelits optica spectrum disorders (NMOSD) - revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part I: Diagnosis and differential diagnosis. J Neurol 2023; 270(7): 3341-68.
- Keene KR, Kan HE, van der Meeren S, et al. Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis. J Cachexia Sarcopenia Muscle 2022; 13(6): 2820-34.
- Dragusin A, Grecu N, Ribigan AC, et al. Low Fluctuation of Symptoms May Delay Diagnosis of Myasthenia Gravis: A Case Series. Neurol Ther 2022; 11(1): 481-7.
- Delgado-Garcia G, Lapidus S, Talero R, et al. The patient journey with NMOSD: From initial diagnosis to chronic condition. Front Neurol 2022; 13: 966428.
- Carnero Contentti E, Lopez PA, Pettinicchi JP, et al. Seasonal variation in attacks of neuromyelitis optica spectrum disorders and multiple sclerosis: Evaluation of 794 attacks from a nationwide registry in Argentina. Mult Scler Relat Disord 2022; 58: 103466.
- Khalilidehkordi E, Clarke L, Arnett S, et al. Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation. Front Neurol 2020; 11: 537.
- Nguyen M, Clough M, Cruse B, et al. Exploring Factors That Prolong the Diagnosis of Myasthenia Gravis. Neurol Clin Pract 2024; 14(1): e200244.
- Szewczyk AK, Papuć E, Mitosek-Szewczyk K, et al. NMOSD-Diagnostic Dilemmas Leading towards Final Diagnosis. Brain Sci 2022; 12(7).
- Grob D, Arsura EL, Brunner NG, et al. The course of myasthenia gravis and therapies affecting outcome. Ann N Y Acad Sci 1987; 505: 472-99.
- Evoli A, Tonali P, Bartoccioni E, et al. Ocular myasthenia: diagnostic and therapeutic problems. Acta Neurol Scand 1988;77(1):31-5.
- Royston M, Kielhorn A, Weycker D, et al. Neuromyelitis Optica Spectrum Disorder: Clinical Burden and Cost of Relapses and Disease-Related Care in US Clinical Practice. Neurol Ther 2021;10(2):767-783.
- Kitley J, Leite MI, Nakashima I, et al. Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan. Brain 2012;135(Pt 6):1834-49.
- Diez Porras L, Homedes C, Alberti MA, et al. Quality of Life in Myasthenia Gravis and Correlation of MG-QOL15 with Other Functional Scales. J Clin Med 2022;11(8).
- Berthele A, Levy M, Wingerchuk DM, et al. A single relapse induces worsening of disability and health-related quality of life in patients with neuromyelitis optica spectrum disorder. Front Neurol 2023;14:1099376.
- Qian P, Lancia S, Alvarez E, et al. Association of neuromyelitis optica with severe and intractable pain. Arch Neurol 2012; 69(11):1482-7.
- Sanders DB, Wolfe GI, Benatar M, et al. International consensus guidance for management of myasthenia gravis: Executive summary. Neurology 2016;87(4):419-25.
- Sussman J, Farrugia ME, Maddison P, et al. Myasthenia gravis: Association of British Neurologists' management guidelines. Pract Neurol 2015;15(3):199-206.
- Smith AD, Moog TM, Burgess KW, et al. Factors associated with the misdiagnosis of neuromyelitis optica spectrum disorder. Mult Scler Relat Disord 2023;70:104498.
