Browse
Submit Data
Databases
API
Help

Dataset Information

25 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Down the Stairs Dystonia-A Novel Task-Specific Focal Isolated Syndrome.

ABSTRACT: Adult-onset, task-specific dystonia of the lower limb is a rare occurrence. In this report, the authors present 6 cases of task-specific dystonia manifested only when going down the stairs. These patients were seen by 6 different neurologists from across Canada, Australia, and New Zealand, and all videos were reviewed by 1 movement disorders specialist who made the final diagnosis. Video description of each case is also presented. All 6 patients demonstrated dystonia of 1 of their lower limbs specifically only when going down the stairs. The remainder of the neurological examination was normal, and distractibility, inconsistency, fixed dystonia, or a premonitory urge were absent, making functional movement disorder and tic disorder unlikely. These 6 patients display a distinct, adult-onset, focal isolated dystonia manifested only on going down the stairs that is recognizable as a new task-specific dystonia of the lower extremity.

SUBMITTER: Menon S

PROVIDER: S-EPMC6353457 | biostudies-literature | 2017 Jan-Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Down the Stairs Dystonia-A Novel Task-Specific Focal Isolated Syndrome.

Menon Suresh S Muglan Jihad A JA Shimon Laith L Stewart Dwight D Snow Barry B Hayes Michael M Fung Victor S C VSC Jog Mandar S MS

Movement disorders clinical practice 20160606 1

Adult-onset, task-specific dystonia of the lower limb is a rare occurrence. In this report, the authors present 6 cases of task-specific dystonia manifested only when going down the stairs. These patients were seen by 6 different neurologists from across Canada, Australia, and New Zealand, and all videos were reviewed by 1 movement disorders specialist who made the final diagnosis. Video description of each case is also presented. All 6 patients demonstrated dystonia of 1 of their lower limbs sp ...[more]

PMID: 30713957

Similar Datasets

Weaver's Dystonia: A Novel form of Focal Task-Specific Dystonia.

Project description: Not available

| S-EPMC7533999 | biostudies-literature

Focal Task-Specific Lower Limb Dystonia Only When Walking Stairs: Is It a New Disease Entity?

Project description:Introduction: Focal task-specific dystonia in the lower limb or foot often occurs only during walking, running, hiking, or cycling. Several medications and botulinum toxin injection are effective in patients with this disorder. The objective of this study was to understand the spectrum of focal task-specific dystonia in the lower limb only when walking stairs and to compare other types of task-specific dystonia. Methods: All original articles and case reports were collected and reviewed using PubMed. In addition, all video clips of published cases were evaluated, and patients' clinical findings analyzed. The present study included 12 patients described in previous studies and five new Asian patients found in the medical records. Results: Most of the patients were women, and the onset age was 42 years. Ten patients were classified as the Kicking type, including three patients with the rKicking type, and six patients were considered as the Lifting type; however, only one patient was not included in any of the types. Symptoms in most of the patients did not improve with any medications or botulinum toxin injection. The symptoms of most patients did not change over a long time. Conclusion: Most patients showed the dystonic symptom when walking downstairs rather than upstairs. Psychogenic dystonia is a disease differentially diagnosed with this dystonia. Unlike other types of focal task-specific dystonia, the response to treatment was disappointing because most of the medications and botulinum toxin injection were not effective. The prognosis is completely different from that of other types of focal task-specific dystonia.

| S-EPMC6842934 | biostudies-literature

Abnormal movement preparation in task-specific focal hand dystonia.

Project description:Electrophysiological and behavioral studies in primary dystonia suggest abnormalities during movement preparation, but this crucial phase preceding movement onset has not yet been studied specifically with functional magnetic resonance imaging (fMRI). To identify abnormalities in brain activation during movement preparation, we used event-related fMRI to analyze behaviorally unimpaired sequential finger movements in 18 patients with task-specific focal hand dystonia (FHD) and 18 healthy subjects. Patients and controls executed self-initiated or externally cued prelearnt four-digit sequential movements using either right or left hands. In FHD patients, motor performance of the sequential finger task was not associated with task-related dystonic posturing and their activation levels during motor execution were highly comparable with controls. On the other hand reduced activation was observed during movement preparation in the FHD patients in left premotor cortex / precentral gyrus for all conditions, and for self-initiation additionally in supplementary motor area, left mid-insula and anterior putamen, independent of effector side. Findings argue for abnormalities of early stages of motor control in FHD, manifesting during movement preparation. Since deficits map to regions involved in the coding of motor programs, we propose that task-specific dystonia is characterized by abnormalities during recruitment of motor programs: these do not manifest at the behavioral level during simple automated movements, however, errors in motor programs of complex movements established by extensive practice (a core feature of FHD), trigger the inappropriate movement patterns observed in task-specific dystonia.

| S-EPMC3805688 | biostudies-literature

Focal Task-specific Dystonia among Professional Musicians in Latin America.

Project description:In Response To: Frucht SJ. Focal task-specific dystonia-from early descriptions to a new, modern formulation. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.7916/D8VD6WHP.

| S-EPMC4648473 | biostudies-other

An unusual cause of difficulty in walking downstairs: Focal task-specific dystonia in the lower limb.

Project description:Stair-specific FTSD in the lower limb is very rare. Most patients show dystonic posture when walking downstairs rather than upstairs.

| S-EPMC7455451 | biostudies-literature

Ataxia and focal dystonia in Kallmann syndrome.

Project description:A case of Kallmann syndrome (KS) associated with rare neurological manifestations is presented. Cerebellar ataxia probably caused by a small posterior fossa and a focal dystonia affecting the left lower limb expand the spectrum of neurological manifestations occurring in KS. Further studies are needed to better understand these manifestations.

| S-EPMC4736517 | biostudies-other

CACNA1B gene variants in adult-onset isolated focal dystonia.

Project description:BackgroundIsolated focal dystonia (IFD) is a heterogeneous group of potentially invalidating movement disorders. The etiopathogenesis is complex, both genetic and environmental factors playing a role, but remains elusive. The CACNA1B gene codes for the N-type neuronal voltage-gated calcium channels CaV2.2, which may play a role in the development of some IFD.MethodsWe analyzed samples from the GENDYS cohort for mutations in CACNA1B gene, using targeted next-generation sequencing (NGS).ResultsThe GENDYS cohort consists of 120 people with adult-onset IFD (cervical dystonia 47.5%, blepharospasm 47.2%, others 8.3%). Of these, 35% had subsequent topographical extension. Average age at onset was 42 and average disease durations 8 years. Targeted NGS revealed a novel frameshift mutation c.2291AGG > A, in exon 19, and a previously reported variant, c.6834T > G, in exon 47.ConclusionOur findings suggest that disease-causing mutations in CACNA1B gene may be involved in the development of some adult-onset IFD. To our knowledge, this is the first study that identified a disease-causing CACNA1B gene mutation in association with adult-onset IFD.

| S-EPMC7870633 | biostudies-literature

Blacksmith's Dystonia Is Another Task-Specific Dystonia: From Past to Present.

Project description: Not available

| S-EPMC9536916 | biostudies-literature

Task-Specific Oromandibular Dystonia in a Telemarketer.

Project description: Not available

| S-EPMC6547033 | biostudies-literature

Anatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach.

Project description:According to expert consensus, dystonia can be classified as focal, segmental, multifocal, and generalized, based on the affected body distribution. To provide an empirical and data-driven approach to categorizing these distributions, we used a data-driven clustering approach to compare frequency and co-occurrence rates of non-focal dystonia in pre-defined body regions using the Dystonia Coalition (DC) dataset. We analyzed 1,618 participants with isolated non-focal dystonia from the DC database. The analytic approach included construction of frequency tables, variable-wise analysis using hierarchical clustering and independent component analysis (ICA), and case-wise consensus hierarchical clustering to describe associations and clusters for dystonia affecting any combination of eighteen pre-defined body regions. Variable-wise hierarchical clustering demonstrated closest relationships between bilateral upper legs (distance = 0.40), upper and lower face (distance = 0.45), bilateral hands (distance = 0.53), and bilateral feet (distance = 0.53). ICA demonstrated clear grouping for the a) bilateral hands, b) neck, and c) upper and lower face. Case-wise consensus hierarchical clustering at k = 9 identified 3 major clusters. Major clusters consisted primarily of a) cervical dystonia with nearby regions, b) bilateral hand dystonia, and c) cranial dystonia. Our data-driven approach in a large dataset of isolated non-focal dystonia reinforces common segmental patterns in cranial and cervical regions. We observed unexpectedly strong associations between bilateral upper or lower limbs, which suggests that symmetric multifocal patterns may represent a previously underrecognized dystonia subtype.

| S-EPMC10621194 | 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