Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

A Case of New Onset Cervical Dystonia in Pregnancy.

ABSTRACT:

Background

Though uncommon, primary movement disorders can occur in pregnancy, the most common being restless legs syndrome and chorea gravidarum [1]. New onset dystonia in pregnancy has been reported four times previously with a resolution of symptoms within six months of delivery [2345]. Exacerbation of pre-existing movement disorders and the onset of de novo movement disorders during pregnancy support the hypothesis that female sex hormones play an important role in the regulation of basal ganglia circuitry.

Case report

Here we describe a case of new-onset cervical dystonia during pregnancy with persistence of symptoms after delivery.

Discussion

The phenotypic overlap between this case and previously reported cases further establishes dystonia gravidarum as a distinct clinical entity.

SUBMITTER: Donlon E

PROVIDER: S-EPMC9783953 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

A Case of New Onset Cervical Dystonia in Pregnancy.

Donlon Eoghan E Moloney Pat P Frier Darragh D McFarlane Robert R Smyth Shane S Molloy Fiona F Walsh Richard R Lynch Tim T McGovern Eavan E

Tremor and other hyperkinetic movements (New York, N.Y.) 20221223

<h4>Background</h4>Though uncommon, primary movement disorders can occur in pregnancy, the most common being restless legs syndrome and chorea gravidarum [1]. New onset dystonia in pregnancy has been reported four times previously with a resolution of symptoms within six months of delivery [2345]. Exacerbation of pre-existing movement disorders and the onset of de novo movement disorders during pregnancy support the hypothesis that female sex hormones play an important role in the regulation of ...[more]

PMID: 36590108

Similar Datasets

Mutations in CIZ1 cause adult onset primary cervical dystonia.

Project description:Primary dystonia is usually of adult onset, can be familial, and frequently involves the cervical musculature. Our goal was to identify the causal mutation in a family with adult onset, primary cervical dystonia.Linkage and haplotype analyses were combined with solution-based whole-exome capture and massively parallel sequencing in a large Caucasian pedigree with adult onset, primary cervical dystonia to identify a cosegregating mutation. High-throughput screening and Sanger sequencing were completed in 308 Caucasians with familial or sporadic adult onset cervical dystonia and matching controls for sequence variants in this mutant gene.Exome sequencing led to the identification of an exonic splicing enhancer mutation in exon 7 of CIZ1 (c.790A>G, p.S264G), which encodes CIZ1, Cip1-interacting zinc finger protein 1. CIZ1 is a p21(Cip1/Waf1) -interacting zinc finger protein expressed in brain and involved in DNA synthesis and cell-cycle control. Using a minigene assay, we showed that c.790A>G altered CIZ1 splicing patterns. The p.S264G mutation also altered the nuclear localization of CIZ1. Screening in subjects with adult-onset cervical dystonia identified 2 additional CIZ1 missense mutations (p.P47S and p.R672M).Mutations in CIZ1 may cause adult onset, primary cervical dystonia, possibly by precipitating neurodevelopmental abnormalities that manifest in adults and/or G1/S cell-cycle dysregulation in the mature central nervous system.

| S-EPMC3334472 | biostudies-literature

Head tremor at disease onset: an ataxic phenotype of cervical dystonia.

Project description:BackgroundCervical dystonia (CD) can present with head tremor. It is unclear whether ataxic features are differentially associated with this phenotype at onset of CD.ObjectivesWe sought to evaluate: (1) the demographic features of CD patients with (Tr-CD) and without head tremor (nTr-CD) at onset, and (2) the differential ataxic features between these CD subtypes.MethodsFor the first objective, we compared demographic data in Tr-CD versus nTr-CD subtypes in the entire cohort of CD subjects enrolled in the Dystonia Coalition Natural History and Biorepository studies (n = 1608). For the second objective, we rated the standardized videos from consecutively enrolled Tr-CD subjects (n = 50) and age-, gender-, and disease duration-matched nTr-CD subjects (n = 50) for ataxia severity scoring using the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS); and for dystonia severity using the Toronto Western Spasmodic Torticollis Rating Scale section-I (TWSTRS) and the Global Dystonia Rating Scale (GDRS).ResultsOf 1,608 subjects, 18.1% (n = 291) were classified as Tr-CD and 81.9% (n = 1317) as nTr-CD. The Tr-CD cohort was older, predominantly female, and had longer disease duration than the nTr-CD cohort (p = 0.01). Compared to nTr-CD, Tr-CD subjects had worse generalized ataxia, speech, and gait and posture scores. High ataxia severity with low dystonia severity distinguished Tr-CD from nTr-CD with high accuracy (area under the curve, 0.91 (95% CI 0.85-0.97).ConclusionsHead tremor at disease onset represents a clinically distinguishable subtype of cervical dystonia affecting predominantly older women, with worse ataxia and milder dystonia than the non-tremulous dystonic phenotype.

| S-EPMC6642013 | biostudies-literature

Social cognition in cervical dystonia: A case-control study.

Project description:BackgroundAlthough considered a motor disorder, adult onset isolated focal dystonia has many non-motor symptoms. There is a paucity of neuropsychological research on cognitive processing in adult onset focal dystonia.MethodsWe employed a battery of clinical and cognitive assessments, including basic and complex social cognition, and assessed 46 patients with adult-onset cervical dystonia, compared to 46 age-, sex-, education-, and premorbid IQ-matched healthy controls.ResultsSignificant between-group differences were observed in relation to measures of memory encoding, recall and recognition, as well as multimodal measures of basic Social Cognition (emotion recognition: face and prosody), but not complex Social Cognition (mentalising). There were no deficits observed in multimodal measures of executive function. Controlling for mood did not affect performance.ConclusionIn this multi-dimensional assessment of cognition in cervical dystonia, we report deficits in memory encoding, and in social cognition. Further investigation of social cognitive processes, memory, and sustained attention are required. Longitudinal studies are also needed to further delineate the role of psychological distress on cognitive outcomes and document the cognitive profile over time.

| S-EPMC8298799 | biostudies-literature

<i>NOTCH2NLC</i> GGC Repeat Expansion Presenting as Adult-Onset Cervical Dystonia.

Project description: Not available

| S-EPMC10105096 | biostudies-literature

Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset.

Project description:Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Because of variable clinical manifestations, NIID was often misdiagnosed. According to published case reports, the common clinical manifestations of NIID include dementia, muscle weakness, autonomic impairment, sensory disturbance, rigidity, ataxia convulsions, etc. However, no cases of oromandibular dystonia were mentioned. Case Presentation: We describe a case of a 58-year-old woman presenting with mouth involuntary chewing initially. She started to show hand tremors, ataxia, and walking instability until 2 years later. Diffusion-weighted imaging showed high intensity signal along the corticomedullary junction. Fluid-attenuated inversion recovery imaging showed white matter hyperintensity. Electromyography (EMG) indicated peripheral nerve degeneration. Neuropsychological testing showed memory loss. Finally, skin biopsy and GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID. Conclusion: This case demonstrated that oromandibular dystonia could be the first symptom of NIID. This case report provides new characteristics of NIID and broadens its clinical spectrum.

| S-EPMC7928273 | biostudies-literature

Clinical and demographic characteristics related to onset site and spread of cervical dystonia.

Project description:BackgroundClinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort.MethodsThe Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60.7%) or segmental (39.3%) cervical dystonia on examination. Clinical and demographic characteristics were evaluated in terms of the body region of dystonia onset and spread.ResultsSite of dystonia onset was: (1) focal neck only (78.5%), (2) focal onset elsewhere with later segmental spread to neck (13.3%), and (3) segmental onset with initial neck involvement (8.2%). Frequency of spread from focal cervical to segmental dystonia (22.8%) was consistent with prior reports, but frequency of segmental onset with initial neck involvement was substantially higher than the 3% previously reported. Cervical dystonia with focal neck onset, more than other subtypes, was associated with spread and tremor of any type. Sensory tricks were less frequent in cervical dystonia with segmental components, and segmental cervical onset occurred at an older age.ConclusionsSubgroups had modest but significant differences in the clinical characteristics that may represent different clinical entities or pathophysiologic subtypes. These findings are critical for design and implementation of studies to describe, treat, or modify disease progression in idiopathic isolated cervical dystonia. © 2016 International Parkinson and Movement Disorder Society.

| S-EPMC5154862 | biostudies-literature

Cervical Dystonia Mimics: A Case Series and Review of the Literature.

Project description:BackgroundCervical dystonia is mostly idiopathic in nature. However, a small subset of cases are mimics, leading to diagnostic pitfalls. There is paucity of literature on pseudodystonias affecting the cervical region.MethodWe performed a retrospective review of patients attending a movement disorders clinic over a period of 7 years (2012–2018). Among them, those who were considered to have mimics of cervical dystonia based upon clinical and supportive investigations were included.ResultsSix out of 2,412 patients (0.24%) were diagnosed as cervical dystonia mimics and the causes included isolated neck extensor myopathy (2), craniovertebral junction anomalies (2), sternocleidomastoid fibrosis (1) and post traumatic sequelae (1). Among these patients, three patients had received various treatments for cervical dystonia, including botulinum toxin injections.DiscussionMimics of isolated cervical dystonia are rare. A high degree of suspicion and proper diligent clinical assessment assists management and prognostication.

| S-EPMC6898896 | biostudies-literature

Cervical Dystonia Following Injury to the Cerebellar Pontine Angle: An Instructive Case.

Project description:A 38-year-old woman presented with cervical dystonia in the context of a recent surgery to remove a vestibular schwannoma. She initially presented to neurology with pain in the right arm, and MRI of the brain showed an incidental right-sided vestibular schwannoma (Video 1, Segment 1). An elective gamma-knife procedure was performed, which failed. Hydrocephalus requiring ventriculoperitoneal shunt insertion developed, and 3 years following the initial procedure the lesion was surgically excised. Surgery was further complicated by right middle cerebellar peduncle injury, extending to the cerebellopontine angle and marginally to the right pontine tegmentum, with subsequent mass effect on cerebellum displayed on follow-up MRI (Video 1, Segment 2). Six months later, the patient experienced forced head deviation to the right, with difficulty moving from this position. Examination revealed clear right-sided torticollis, with hypertrophy of the left sternocleidomastoid muscle. Cervical dystonia worsened with action and nearly resolved with the patient lying down. A clear geste antagoniste, where symptoms improved with the patient touching the side of her head, was present (Video 1, Segment 3). Findings consistent with injury to the cerebellar pathways were additionally exhibited. She demonstrated clear dysarthria, bilateral dysmetria, dysdiadochokinesia (worse on the right), and prominent gait ataxia (Video 1, Segment 4). Although a possible role of the schwannoma itself in the cervical dystonia pathogenesis cannot be entirely ruled out, the timing of signs, occurring soon after the postsurgical injury, suggest a prominent involvement of structures lying within the cerebellar pontine angle.

| S-EPMC6277374 | biostudies-literature

Segmental Dystonia in the Context of Dextromethorphan Abuse: A New Cause of Delayed Onset Drug-Induced Dystonia?

Project description: Not available

| S-EPMC6353523 | biostudies-literature

A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment.

Project description:BACKGROUND:Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. To date, fewer than 75 RDP cases have been reported worldwide. Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski sign. CASE PRESENTATION:We report a 24-year-old Chinese female with RDP who exhibited a strikingly asymmetric, predominantly dystonic movement disorder with a rostrocaudal gradient of involvement and parkinsonism. Physical examiniations revealed hyperactive reflexes, bilateral ankle clonus and positive Babinski sign in the right. DTI showed reduced white matter integrity of the corticospinal tract in the frontal lobe and subpontine plane. Genetic testing revealed a missense mutation of the ATP1A3-gene (E277K) in the patient. CONCLUSION:We suggest that pyramidal tract impairment could be involved in rapid-onset dystonia-parkinsonism and the pyramidal tract impairment in RDP needs to be differentiated from HSP.

| S-EPMC5105251 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data