Diagnostic approach to paediatric movement disorders: a clinical practice guide

Groningen Movement Disorder Expertise Centre, Rick Brandsma, Martje E van Egmond, Marina A J Tijssen*

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

1 Citaat (Scopus)
16 Downloads (Pure)

Samenvatting

Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships. This can make the diagnostic process time-consuming and difficult. In this overview, we present a diagnostic approach for PMDs, with emphasis on genetic causes. This approach can serve as a framework to lead the clinician through the diagnostic process in eight consecutive steps, including recognition of the different movement disorders, identification of a clinical syndrome, consideration of acquired causes, genetic testing including next-generation sequencing, post-sequencing phenotyping, and interpretation of test results. The aim of this approach is to increase the recognition and diagnostic yield in PMDs.

Originele taal-2English
Pagina's (van-tot)252-258
Aantal pagina's7
TijdschriftDevelopmental Medicine and Child Neurology
Volume63
Nummer van het tijdschrift3
Vroegere onlinedatum5-nov-2020
DOI's
StatusPublished - mrt-2021

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