title: A novel diagnostic approach to patients with myoclonus.
abstract: Myoclonus is a hyperkinetic movement disorder characterized by brief, involuntary muscular jerks. Recognition of myoclonus and determination of the underlying aetiology remains challenging given that both acquired and genetically determined disorders have varied manifestations. The diagnostic work-up in myoclonus is often time-consuming and costly, and a definitive diagnosis is reached in only a minority of patients. On the basis of a systematic literature review up to June 2015, we propose a novel diagnostic eight-step algorithm to help clinicians accurately, efficiently and cost-effectively diagnose myoclonus. The large number of genes implicated in myoclonus and the wide clinical variation of these genetic disorders emphasize the need for novel diagnostic techniques. Therefore, and for the first time, we incorporate next-generation sequencing (NGS) in a diagnostic algorithm for myoclonus. The initial step of the algorithm is to confirm whether the movement disorder phenotype is consistent with, myoclonus, and to define its anatomical subtype. The next steps are aimed at identification of both treatable acquired causes and those genetic causes of myoclonus that require a diagnostic approach other than NGS. Finally, other genetic diseases that could cause myoclonus can be investigated simultaneously by NGS techniques. To facilitate NGS diagnostics, we provide a comprehensive list of genes associated with myoclonus.
authors.affiliation: Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.
authors.forename: Rodi
authors.initials: R
authors.lastname: Zutt
authors.affiliation: Ommelander Ziekenhuisgroep, Department of Neurology, PO Box 30.000, 9670 RA Delfzijl and Winschoten, Netherlands.
authors.forename: Martje E
authors.initials: ME
authors.lastname: van Egmond
authors.affiliation: Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.
authors.forename: Jan Willem
authors.initials: JW
authors.lastname: Elting
authors.affiliation: Department of Radiology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.
authors.forename: Peter Jan
authors.initials: PJ
authors.lastname: van Laar
authors.affiliation: Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.
authors.forename: Oebele F
authors.initials: OF
authors.lastname: Brouwer
authors.affiliation: Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Sival
authors.affiliation: Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.
authors.forename: Hubertus P
authors.initials: HP
authors.lastname: Kremer
authors.affiliation: Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.|Department of Genetics, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.
authors.forename: Tom J
authors.initials: TJ
authors.lastname: de Koning
authors.affiliation: Department of Neurology, University Medical Centre Groningen, PO Box 30.001, 9700 RB Groningen, Netherlands.
authors.forename: Marina A
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000465:Algorithms; D003937:Diagnosis, Differential; D004594:Electrophysiology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009207:Myoclonus / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D009420:Nervous System / Q000473:pathology / Q000503:physiopathology; D059906:Neuroimaging