Diagnosis of Multiple Sclerosis

Purpose of review: The diagnosis of multiple sclerosis (MS) can be made based on clinical symptoms and signs alone or a combination of clinical and paraclinical features. Diagnostic criteria for MS have evolved over time, and the latest version facilitates earlier diagnosis of MS in those presenting with typical clinical syndromes. This article summarizes the current diagnostic criteria for MS, typical and atypical presentations of MS, and when diagnostic criteria should be applied with caution.

Recent findings: The most recent version of the MS diagnostic criteria has the benefits of simplicity and greater sensitivity in comparison to previous iterations. However, misdiagnosis remains a significant issue in MS clinical care, even at MS specialty centers. It is, therefore, evident that careful clinical application of the current version of the diagnostic criteria is necessary and that tools improving the diagnostic accuracy of MS would be of substantial clinical utility. Emerging diagnostic biomarkers that may be useful in this regard, including the central vein sign, paramagnetic rim lesions, and fluid biomarkers, are discussed.

Summary: Current MS diagnostic criteria facilitate the early diagnosis of MS in people presenting with typical clinical syndromes but should be used cautiously in those presenting with atypical syndromes and in special populations. Clinical judgment and existing paraclinical tools, including sequential MRIs of the neuraxis and laboratory tests, are useful in minimizing misdiagnosis and facilitating the accurate diagnosis of MS. Diagnostic biomarkers that may facilitate or refute a diagnosis of MS in these settings, and emerging imaging and fluid biomarkers may eventually become available for use in clinical settings.