Dataset Information

Gait Impairment in Myoclonus-Dystonia (DYT-SGCE).

ABSTRACT: Background:Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common. Case report:A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (SGCE) gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs. Discussion:Although it is not typical, leg involvement could be a manifestation of myoclonus-dystonia either at presentation or during disease progression.

SUBMITTER: Haeri G

PROVIDER: S-EPMC6691910 | biostudies-other | 2019

REPOSITORIES: biostudies-other

ACCESS DATA

Publications

Gait Impairment in Myoclonus-Dystonia (DYT-<i>SGCE</i>).

Haeri Ghazal G Shahidi Gholamali G Fasano Alfonso A Rohani Mohammad M

Tremor and other hyperkinetic movements (New York, N.Y.) 20190802

<h4>Background</h4>Myoclonus-dystonia usually presents variable combination of myoclonus and dystonia mainly affecting the neck and arms, but leg involvement, especially as the presenting sign, is not common.<h4>Case report</h4>A 29-year-old lady with a heterozygous mutation in Epsilon-sarcoglycan (<i>SGCE</i>) gene is presented with rapid jerks of the right leg interfering with walking. She has also manifested dystonic posture and jerks of the trunk and proximal upper limbs.<h4>Discussion</h4>A ...[more]

PMID: 31413899

Similar Datasets

Project description:Non-motor aspects in dystonia are now well recognized. The sense of agency, which refers to the experience of controlling one's own actions, has been scarcely studied in dystonia, even though its disturbances can contribute to movement disorders. Among various brain structures, the cerebral cortex, the cerebellum, and the basal ganglia are involved in shaping the sense of agency. In myoclonus dystonia, resulting from a dysfunction of the motor network, an altered sense of agency may contribute to the clinical phenotype of the condition. In this study, we compared the explicit and implicit sense of agency in patients with myoclonus dystonia caused by a pathogenic variant of SGCE (DYT-SGCE) and control participants. We utilized behavioural tasks to assess the sense of agency and performed neuroimaging analyses, including structural, resting-state functional connectivity, and dynamic causal modelling, to explore the relevant brain regions involved in the sense of agency. Additionally, we examined the relationship between behavioural performance, symptom severity, and neuroimaging findings. We compared 19 patients with DYT-SGCE and 24 healthy volunteers. Our findings revealed that patients with myoclonus-dystonia exhibited a specific impairment in explicit sense of agency, particularly when implicit motor learning was involved. However, their implicit sense of agency remained intact. These patients also displayed grey-matter abnormalities in the motor cerebellum, as well as increased functional connectivity between the cerebellum and pre-supplementary motor area. Dynamic causal modelling analysis further identified reduced inhibitory effects of the cerebellum on the pre-supplementary motor area, decreased excitatory effects of the pre-supplementary motor area on the cerebellum, and increased self-inhibition within the pre-supplementary motor area. Importantly, both cerebellar grey-matter alterations and functional connectivity abnormalities between the cerebellum and pre-supplementary motor area were found to correlate with explicit sense of agency impairment. Increased self-inhibition within the pre-supplementary motor area was associated with less severe myoclonus symptoms. These findings highlight the disruption of higher-level cognitive processes in patients with myoclonus-dystonia, further expanding the spectrum of neurological and psychiatric dysfunction already identified in this disorder.

Dataset Information

Gait Impairment in Myoclonus-Dystonia (DYT-SGCE).

Publications

Gait Impairment in Myoclonus-Dystonia (DYT-<i>SGCE</i>).

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets