A novel diagnostic approach to patients with myoclonus
(2015) In Nature Reviews Neurology 11. p.687-697- 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... (More)
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.
(Less)
- author
- Zutt, Rodi ; Van Egmond, Martje E. ; Elting, Jan Willem ; Van Laar, Peter Jan ; Brouwer, Oebele F. ; Sival, Deborah A. ; Kremer, Hubertus P. ; De Koning, Tom J. LU and Tijssen, Marina A.
- publishing date
- 2015-12-01
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Reviews Neurology
- volume
- 11
- pages
- 687 - 697
- publisher
- Nature Publishing Group
- external identifiers
-
- scopus:84949318819
- pmid:26553594
- ISSN
- 1759-4758
- DOI
- 10.1038/nrneurol.2015.198
- language
- English
- LU publication?
- no
- id
- c08fded7-a405-479c-acd1-8208f2a6807d
- date added to LUP
- 2020-02-26 10:02:14
- date last changed
- 2024-05-16 06:48:10
@article{c08fded7-a405-479c-acd1-8208f2a6807d,
abstract = {{<p>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.</p>}},
author = {{Zutt, Rodi and Van Egmond, Martje E. and Elting, Jan Willem and Van Laar, Peter Jan and Brouwer, Oebele F. and Sival, Deborah A. and Kremer, Hubertus P. and De Koning, Tom J. and Tijssen, Marina A.}},
issn = {{1759-4758}},
language = {{eng}},
month = {{12}},
pages = {{687--697}},
publisher = {{Nature Publishing Group}},
series = {{Nature Reviews Neurology}},
title = {{A novel diagnostic approach to patients with myoclonus}},
url = {{http://dx.doi.org/10.1038/nrneurol.2015.198}},
doi = {{10.1038/nrneurol.2015.198}},
volume = {{11}},
year = {{2015}},
}