Movement disorders clinical practice · 2024
Diagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the MDS Clinical Neurophysiology Study Group.
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Latorre Anna, Ganos Christos, Hamada Masashi, Phielipp Nicolas, Rocchi Lorenzo, Merchant Shabbir, Tijssen Marina A, van der Veen Sterre, Chen Robert
Аннотация
BACKGROUND: Myoclonus and other jerky movement disorders are hyperkinetic disorders, the diagnosis of which heavily relies on clinical neurophysiological testing. However, formal diagnostic criteria are lacking, and recently the utility and reliability of these tests have been questioned.
OBJECTIVE: The aim of this review was to assess the utilization of clinical neurophysiology testing to identify possible gaps and boundaries that might guide the development of new methods for a more precise diagnosis and in-depth understanding of myoclonus.
METHODS: We reviewed electrophysiological features of cortical myoclonus, subcortical myoclonus (ie, myoclonus associated with dystonia, brainstem myoclonus), excessive startle reflex, spinal myoclonus (ie, spinal segmental and propriospinal myoclonus), peripheral myoclonus and mimics of myoclonus of peripheral origin (hemifacial spasm, minipolymyoclonus, myokymia), functional jerky movements, chorea, and tics.
RESULTS: Electrophysiological features that support the recognition of myoclonus subtypes, such as muscle burst duration, muscle pattern of activation, measures of cortical excitability, or movement-related cortical potentials, have been identified. These significantly contribute to the diagnosis of jerky movement disorders, but their reliability is uncertain. Despite the significant advancements, several unresolved questions persist. Factors contributing to this include the absence of systematic neurophysiological assessment and standardized methods, alongside the limited number of patients investigated using these techniques.
CONCLUSION: Although clinical neurophysiology remains the "gold standard" for defining and diagnosing myoclonus, our review highlighted the need to enhance the quality and reliability of neurophysiological testing in jerky movement disorders. Further studies including larger cohorts of patients recruited from different centers, employing standardized and optimized electrophysiological techniques, are warranted.
OBJECTIVE: The aim of this review was to assess the utilization of clinical neurophysiology testing to identify possible gaps and boundaries that might guide the development of new methods for a more precise diagnosis and in-depth understanding of myoclonus.
METHODS: We reviewed electrophysiological features of cortical myoclonus, subcortical myoclonus (ie, myoclonus associated with dystonia, brainstem myoclonus), excessive startle reflex, spinal myoclonus (ie, spinal segmental and propriospinal myoclonus), peripheral myoclonus and mimics of myoclonus of peripheral origin (hemifacial spasm, minipolymyoclonus, myokymia), functional jerky movements, chorea, and tics.
RESULTS: Electrophysiological features that support the recognition of myoclonus subtypes, such as muscle burst duration, muscle pattern of activation, measures of cortical excitability, or movement-related cortical potentials, have been identified. These significantly contribute to the diagnosis of jerky movement disorders, but their reliability is uncertain. Despite the significant advancements, several unresolved questions persist. Factors contributing to this include the absence of systematic neurophysiological assessment and standardized methods, alongside the limited number of patients investigated using these techniques.
CONCLUSION: Although clinical neurophysiology remains the "gold standard" for defining and diagnosing myoclonus, our review highlighted the need to enhance the quality and reliability of neurophysiological testing in jerky movement disorders. Further studies including larger cohorts of patients recruited from different centers, employing standardized and optimized electrophysiological techniques, are warranted.