Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.

Neuromodulation : journal of the International Neuromodulation Society - 1 Aug 2022

Sobstyl Michał, Stapińska-Syniec Angelika, Zaremba Jacek, Jurek Marta, Kupryjaniuk Anna, Rylski Marcin

Abstract excerpt

OBJECTIVES: The study aimed to present a family with myoclonus dystonia (M-D) syndrome due to a mutation in the epsilon sarcoglycan gene (SGCE). Three members of the family suffered from treatment-refractory severe myoclonic jerks of the neck, trunk, and upper extremities. The mild dystonic symptoms recognized as cervical dystonia or truncal dystonia affected all individuals. The efficacy of pharmacotherapy,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Deep Brain Stimulation
Share to Dystonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonic Disorders

Share to Globus Pallidus

Share to Mutation

Share to Myoclonus

Share to Sarcoglycans

Share to Treatment Outcome

Source

Identifiers

PMID: 33497502
DOI: 10.1111/ner.13362

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.PMID 33497502Read ↗

Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study.Semantic proximity Read ↗

Dystonia: clinical features, genetics, and treatmentSemantic proximity Read ↗

A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.Semantic proximity Read ↗

Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation.Semantic proximity Read ↗

Deep brain stimulation in myoclonus-dystonia syndrome.Semantic proximity Read ↗

Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome.Semantic proximity Read ↗

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.Semantic proximity Read ↗

Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations.Semantic proximity Read ↗

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.Semantic proximity Read ↗

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.Semantic proximity Read ↗

Deep Brain Stimulation for Generalized Dystonia from Secondary Carnitine Deficiency: A Case Report and Literature Review.Semantic proximity Read ↗

Beneficial effect of deep brain stimulation of GPi in a patient with dystonia-deafness phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.