Evidence map›Paper›PMID 41025404›Full record

SynthesisMovement disorders clinical practice2026

Managing Dystonia in Partington Syndrome.

Emilie Pichon, Aurea Alioth, Sabina Catalano Chiuvé, André Zacharia, Marta Ruiz-Lopez, David P Breen, Florence Zangas-Gehri, Florent Draye, Aurore Curie, Duncan Wilson and 4 more

Abstract readCase ReportsSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Movement disorders clinical practice, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
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

14 authors.

Emilie PichonService of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.ORCID https://orcid.org/0009-0000-5269-6431
Aurea AliothDepartment of Neurology, University of Geneva and University Hospitals of Geneva, Geneva, Switzerland.
Sabina Catalano ChiuvéDepartment of Neurology, University of Geneva and University Hospitals of Geneva, Geneva, Switzerland.ORCID https://orcid.org/0000-0002-3789-5827
André ZachariaDepartment of Neurology, University of Geneva and University Hospitals of Geneva, Geneva, Switzerland.ORCID https://orcid.org/0000-0002-3011-4792
Marta Ruiz-LopezMovement Disorder Neurology, University Hospitals Cruces, Bilbao, Spain.
David P BreenAnne Rowling Regenerative Neurology Clinic, Institute for Neuroscience and Cardiovascular Research, University of Edinburgh, Edinburgh.
Florence Zangas-GehriPediatric Neurology Unit, Subspecialities service, Department of Pediatrics, University of Geneva and University Hospitals of Geneva, Geneva, Switzerland.
Florent DrayeInstitute of Neuroinformatics, ETH Zurich and University of Zurich, Zurich, Switzerland.
Aurore CurieReference Center for Intellectual Disability from Rare Causes, Child Neurology Department, Woman Mother and Child Hospital, Hospices Civils de Lyon, F-69500, Bron, France.
Duncan WilsonEdmond J. Safra Movement Disorder Fellow, Westmead Hospital, Sydney, Australia.
Victor S C FungMovement Disorders Unit Department of Neurology, Westmead Hospital and Sydney Medical School, University of Sydney, Sydney, Australia.ORCID https://orcid.org/0000-0003-3085-2282
Stephen DumaDepartment of Neurology, St George Hospital, Sydney, Australia.ORCID https://orcid.org/0000-0002-6160-4807
Joël FlussInstitute of Neuroinformatics, ETH Zurich and University of Zurich, Zurich, Switzerland.
Julien F BallyService of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain. CASES: We present 2 cases of Partington syndrome featuring Aristaless-related homeobox (ARX) gene mutations, hand dystonia, and other clinical signs. Various drug treatments were attempted, including levodopa (l-dopa), trihexyphenidyl, tetrabenazine, and benzodiazepines, as well as botulinum toxin. Additionally, a blinded dystonia protocol was used to assess l-dopa's efficacy in 1 patient, which confirmed only mild benefit. LITERATURE REVIEW: Through a systematic review of the literature, we found that only l-dopa and baclofen might result in mild improvement, whereas propranolol, gabapentin, and haloperidol were reported as ineffective. The descriptions in those studies were, however, imprecise and the improvement rather mild, hindering definitive conclusions about their effectiveness.

conclusionsTreatment options in Partington syndrome-associated dystonia remain elusive. Further research and additional case studies are needed to fully characterize the clinical features of Partington syndrome and to identify effective treatments.

Indexed as

DystoniaDystonic DisordersIntellectual DisabilityAdultFemaleHumansLevodopaMaleMiddle AgedSyndromeLevodopaAristaless‐related homeobox (ARX) genedystonia“Geste antagoniste”Partingtontreatment

Identifiers

PMID41025404
PMCPMC13020569

What OpenQuestion holds

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Registered trials

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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.