Evidence map›Paper›PMID 29219190›Full record

ReviewThe Laryngoscope2018

Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.

Andrew Blitzer, Mitchell F Brin, Kristina Simonyan, Laurie J Ozelius, Steven J Frucht

Registry-linked trialAbstract readReview
In one paragraph

Review in The Laryngoscope, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03042962 (Brain Networks in Dystonia), which is not on this map. Cited by 34 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03042962 recruitingnot on this map

Brain Networks in Dystonia

TypeobservationalSponsorMassachusetts Eye and Ear InfirmaryRan2015 to 2027Enrolled141ConditionsSpasmodic Dysphonia, Singer's Dystonia, Writer's Cramp, Musician's Focal Hand DystoniaArmsMRI, Blood draw
3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Electromyography of the posterior cricoarytenoid muscles: a consensus guideline.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2022
    Guideline
  3. Laryngeal dystonia: a comprehensive review of aetiology, clinical presentation, diagnosis, and treatment approaches.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
    Review
  4. Comprehensive description of clinical features of laryngeal dystonia and dystonic vocal tremor.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2026
    Article
  5. Article
  6. Article
  7. Article
  8. Automated Creak Detection in Spanish Speakers with and without AdLD.Journal of voice : official journal of the Voice Foundation · 2026
    Article
  9. Treatment of Neurogenic Voice Disorders.World journal of otorhinolaryngology - head and neck surgery · 2025
    Review
  10. Article
  11. Article
  12. Article
  13. Spasmodic dysphonia: the need for a combined neurological and phoniatric approach.Journal of neural transmission (Vienna, Austria : 1996) · 2025
    Article
  14. Article
  15. How Do I Examine Laryngeal Dystonia?Movement disorders clinical practice · 2024
    Article
  16. Demographic and clinical characteristics of our patients diagnosed with laryngeal dystonia.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024
    Article
  17. Review
  18. Temporal Signature of Task-Specificity in Isolated Focal Laryngeal Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2023
    Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Andrew BlitzerDepartment of Otolaryngology-Head and Neck Surgery, Columbia University, College of Physicians and Surgeons, New York, New York.ORCID 0000-0002-0343-7414
Mitchell F BrinDepartment of Neurology, the University of California, Irvine, Irvine, California.
Kristina SimonyanDepartment of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.ORCID 0000-0001-7444-0437
Laurie J OzeliusDepartment of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
Steven J FruchtDepartment of Neurology, Icahn School of Medicine at Mt. Sinai, New York, New York.

Funding

Imaging genetics of spasmodic dysphoniaR01DC011805 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Kristina Simonyan · 2012 to 2026
$8.8M
Voice tremor in spasmodic dysphonia: central mechanisms and treatment responseR01DC012545 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI SIMONYAN, KRISTINA · 2012 to 2021
$5.2M
Brain Networks in DystoniaR01NS088160 · NINDS · MASSACHUSETTS EYE AND EAR INFIRMARY · PI SIMONYAN, KRISTINA · 2015 to 2019
$2.4M
NIDCD NIH HHS R01 DC011805NIDCD NIH HHS R01 DC012545NINDS NIH HHS R01 NS088160
6 · The paper itself

Abstract

objectiveLaryngeal dystonia (LD) is a functionally specific disorder of the afferent-efferent motor coordination system producing action-induced muscle contraction with a varied phenomenology. This report of long-term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment.

methodsOur studies categorized over 1,400 patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations. Patients were grouped on clinical phenotype (adductor or abductor) and genotype (sporadic and familial) and with DNA analysis and functional magnetic resonance imaging (fMRI) to investigate brain organization differences and characterize neural markers for genotype/phenotype categorization. A number of patients with alcohol-sensitive dystonia were also studied.

resultsA spectrum of LD phenomena evolved: adductor, abductor, mixed, singer's, dystonic tremor, and adductor respiratory dystonia. Patients were genetically screened for DYT (dystonia) 1, DYT4, DYT6, and DYT25 (GNAL)-and several were positive. The functional MRI studies showed distinct alterations within the sensorimotor network, and the LD patients with a family history had distinct cortical and cerebellar abnormalities. A linear discriminant analysis of fMRI findings showed a 71% accuracy in characterizing LD from normal and in characterizing adductor from abductor forms.

conclusionContinuous studies of LD patients over 30 years has led to an improved understanding of the phenomenological characteristics of this neurological disorder. Genetic and fMRI studies have better characterized the disorder and raise the possibility of making objective rather than subjective diagnoses, potentially leading to new therapeutic approaches. Laryngoscope, 128:S1-S9, 2018.

Indexed as

Brain MappingCentral Nervous SystemDystonic DisordersGenotypeHumansLaryngeal DiseasesMagnetic Resonance ImagingPhenotypebotulinum toxindysphoniaLaryngeal dystonia

Identifiers

PMID29219190
PMCPMC5757628

What OpenQuestion holds

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.