Myoclonus-dystonia associated with epsilon-sarcoglycan gene (SGCE) is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than half of the patients. When the clinical picture is clearly identified, more than half of the cases are associated with mutations in the SGCE gene. We herein describe a family with myoclonus-dystonia associated with a novel mutation in exon 7 of SGCE, c.904A>T (p.Lys302Ter) [Chr7:(GRCh38):g.94600779 T>A], which was absent in a non-affected member. A video recording of two of the affected members is provided. While the index case presents a severe cervical dystonia even affecting back posture, his sibling shows a much milder phenotype with mild myoclonic jerks. None of them had alcohol responsiveness or psychiatric comorbidity.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10072-020-04718-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia.
Parkinsonism Relat Disord
February 2025
Department of Neurology, University Hospital Schleswig Holstein, Ratzeburger Allee 160, 23538, Lübeck, Germany. Electronic address:
Natural history of SGCE-associated myoclonus dystonia in children and adolescents.
Dev Med Child Neurol
January 2025
Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.
Am 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.
View Article and Find Full Text PDFDiagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the MDS Clinical Neurophysiology Study Group.
Mov Disord Clin Pract
December 2024
Krembil Research Institute, University Health Network, University of Toronto, Toronto, Ontario, Canada.
Background: Myoclonus and other jerky movement disorders are hyperkinetic disorders, the diagnosis of which heavily relies on clinical neurophysiological testing. However, formal diagnostic criteria are lacking, and recently the utility and reliability of these tests have been questioned.
Objective: The aim of this review was to assess the utilization of clinical neurophysiology testing to identify possible gaps and boundaries that might guide the development of new methods for a more precise diagnosis and in-depth understanding of myoclonus.
Natural history of SGCE-associated myoclonus dystonia in children and adolescents.
Dev Med Child Neurol
December 2024
Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.
Aim: To investigate the natural progression of SGCE-associated myoclonus dystonia from symptom onset in childhood to early adulthood.
Method: Myoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!