Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm

Egmond, Martje E van; Kuiper, Anouk; Eggink, Hendriekje; Sinke, Richard J.; Brouwer, Oebele F.; Verschuuren‐Bemelmans, Corien C.; Sival, Deborah A; Tijssen, Marina A. J.; Koning, Tom J. de

doi:10.1136/jnnp-2014-309106

Cited by 60 publications

(61 citation statements)

References 42 publications

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“…Genetic testing can identify these atypical cases. It is particularly valuable for the identification of the more than 20 neurological disorders with dystonia where there are more appropriate therapies (Jinnah and Factor 2015; van Egmond et al 2014). …”

Section: Can Genetic Testing Improve Dbs Outcomes?mentioning

confidence: 99%

“…For the combined dystonia syndromes, diagnostic testing traditionally involves delineating the clinical syndrome, and testing for a few specific genes that seem most relevant (Jinnah and Factor 2015; Balint and Bhatia 2015; van Egmond et al 2014; Fung et al 2013). This approach requires a high level of expertise on neurogenetics, which is not widely available in the community.…”

Section: Can Genetic Testing Improve Dbs Outcomes?mentioning

confidence: 99%

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Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing

et al. 2017

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The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal movements and postures. There are many different clinical manifestations and underlying causes. Deep brain stimulation (DBS) provides an effect treatment, but outcomes can vary considerably among the different subtypes of dystonia. Several variables are thought to contribute to this variation including age of onset and duration of dystonia, specific characteristics of the dystonic movements, location of stimulation and stimulator settings, and others. The potential contributions of genetic factors have received little attention. In this review, we summarize evidence that some of the variation in DBS outcomes for dystonia is due to genetic factors. The evidence suggests that more methodical genetic testing may provide useful information in the assessment of potential surgical candidates, and in advancing our understanding of the biological mechanisms that influence DBS outcomes.

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Section: Can Genetic Testing Improve Dbs Outcomes?mentioning

confidence: 99%

Section: Can Genetic Testing Improve Dbs Outcomes?mentioning

confidence: 99%

Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing

et al. 2017

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“…A recently published systematic review by van Egmond et al outlined a diagnostic algorithm for children and adolescents presenting with dystonia. This algorithm includes next‐generation sequencing testing earlier rather than focusing on pattern recognition for known dystonia syndromes as a result of the clinical heterogeneity seen in many dystonia syndromes 14. Although DYT24 has been predominantly an adult‐onset disorder, it should remain a part of the differential diagnosis of a child with dystonia.…”

Section: Discussionmentioning

confidence: 99%

Youngest presenting patient with dystonia 24 and review of the literature

Nelin

Faux

et al. 2018

Clinical Case Reports

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“…A systematic review of dystonias that first emerge in children and adolescents listed 35 different disorders where specific disease-related treatments are now available (48)**. Although this report focused on children and adolescents, many of the disorders listed occasionally may emerge later in adulthood, similar to dopa-responsive dystonia and Wilson’s disease.…”

Section: New Diagnostic and Treatment Strategies For Combined Dystonimentioning

confidence: 99%

“…This strategy is likely to capture even atypical clinical syndromes, and may be easier to apply for clinicians who do not specialize in dystonia or neurogenetics. Most likely some combination of these two strategies will be most useful (48). Targeted diagnostic testing for one or a few disorders may be most appropriate for patients who present with readily recognizable and classical clinical syndromes, while the broader net of whole exome sequencing may be preferable for those who present with syndromes that do not point clearly to a specific disorder.…”

Section: New Diagnostic and Treatment Strategies For Combined Dystonimentioning

confidence: 99%

Recent developments in dystonia

Jinnah

Teller

Galpern

2015

Current Opinion in Neurology

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Purpose of review The dystonias are a family of related disorders with many different clinical manifestations and causes. This review summarizes recent developments regarding these disorders, focusing mainly on advances with direct clinical relevance from the past two years. Recent findings The dystonias are generally defined by their clinical characteristics, rather than by their underlying genetic or neuropathological defects. The many varied clinical manifestations and causes contribute to the fact that they are one of the most poorly recognized of all movement disorders. A series of recent publications has addressed these issues offering a revised definition and more logical means for classifying the many subtypes. Our understanding of the genetic and neurobiological mechanisms responsible for different types of dystonias also has grown rapidly, creating new opportunities and challenges for diagnosis and identifying increasing numbers of rare subtypes for which specific treatments are available. Summary Recent advances in describing the clinical phenotypes and determining associated genotypes have pointed to the need for new strategies for diagnosis, classification and treatment of the dystonias.

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Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm

Cited by 60 publications

References 42 publications

Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing

Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing

Youngest presenting patient with dystonia 24 and review of the literature

Recent developments in dystonia

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