Aim: To determine the movement features governing expert assessment of gait dystonia severity in individuals with cerebral palsy (CP).
Method: In this prospective cohort study, three movement disorder neurologists graded lower extremity dystonia severity in gait videos of individuals with CP using a 10-point Likert-like scale. Using conventional content analysis, we determined the features experts cited when grading dystonia severity. Then, using open-source pose estimation techniques, we determined gait variable analogs of these expert-cited features correlating with their assessments of dystonia severity.
Results: Experts assessed videos from 116 participants (46 with dystonia aged 15 years [SD 3] and 70 without dystonia aged 15 years [SD 2], both groups ranging 10-20 years old and 50% male). Variable limb adduction was most commonly cited by experts when identifying dystonia, comprising 60% of expert statements. Effect on gait (regularity, stability, trajectory, speed) and dystonia amplitude were common features experts used to determine dystonia severity, comprising 19% and 13% of statements respectively. Gait variables assessing adduction variability and amplitude (inter-ankle distance variance and foot adduction amplitude) were significantly correlated with expert assessment of dystonia severity (multiple linear regression, p < 0.001).
Interpretation: Adduction variability and amplitude are quantifiable gait features that correlate with expert-determined gait dystonia severity in individuals with CP. Consideration of these features could help optimize and standardize the clinical assessment of gait dystonia severity in individuals with CP.
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http://dx.doi.org/10.1111/dmcn.15524 | DOI Listing |
Cureus
November 2024
Psychiatry, Drexel University College of Medicine, West Reading, USA.
Acute dystonia is a neurological condition characterized by involuntary muscle contractions that can affect various parts of the body. It is commonly triggered by the use of antipsychotic medications, especially within the first few days after administration. Respiratory acute laryngeal dystonia, a particularly severe form of this condition and a very subtype of laryngeal dystonia, can lead to respiratory distress and airway obstruction if not promptly treated.
View Article and Find Full Text PDFParkinsonism Relat Disord
December 2024
IRCCS NEUROMED, Pozzilli, Italy; Department of Translational Biomedicine and Neuroscience, Aldo Moro University of Bari, Italy.
Introduction: Idiopathic blepharospasm is a clinically heterogeneous form of focal dystonia, also associated with psychiatric symptoms. The identification of the most relevant sets of motor and psychiatric manifestations may help better understand the specific phenomenology of the condition and delineate blepharospasm subtypes more accurately.
Methods: Patients with idiopathic blepharospasm were from the Dystonia Coalition project.
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Bochkov Research Centre for Medical Genetics, Moscow, Russia.
A fifth world case of autosomal recessive Siddiqi syndrome (SIDDIS) related to ene is presented. In a consanguineous Lezgin (a Dagestan ethnicity) family, there were two affected brothers aged 28 yrs (proband, personally examined) and 32 yrs. Whole-exome sequencing followed by familial Sanger sequencing detected a novel missence variant c.
View Article and Find Full Text PDFAnn Neurosci
December 2024
Amity Institute of Psychology and Applied Sciences, Amity University, Noida, Uttar Pradesh, India.
Background: Parkinson's disease (PD) is a degenerative brain disease characterised by motor and non-motor symptoms. Motor disabilities, including dystonia and dyskinesia, cause speech and movement difficulties and limit many aspects of life. Factors affecting PD refer to the various internal and external conditions that contribute to the onset, severity and progression of the disease.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Medical Genetic Division, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
Myoclonus-dystonia syndrome (MDS, OMIM #159900) is an autosomal-dominant movement disorder caused by heterozygous variants in the epsilon sarcoglycan gene (SGCE) and characterized by a combination of myoclonic jerks, dystonia, and psychiatric comorbidities. Patients with MDS have a normal life expectancy with markedly reduced quality of life. Here, we report four family members diagnosed with MDS of variable severity due to a novel heterozygous splicing variant in SGCE (c.
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