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Diagnosing Huntington's disease on the medical ward.
BMJ Case Rep
January 2025
Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA
An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington's disease (HD) was made.
View Article and Find Full Text PDFPathogenic Variant in the 5'-Untranslated Region of and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
DaxibotulinumtoxinA Treatment for Laryngeal Respiratory Dystonia.
J Voice
January 2025
Department of Otolaryngology-Head and Neck Surgery, UCSF Voice and Swallowing Center, UCSF School of Medicine, San Francisco, CA. Electronic address:
Background: Laryngeal respiratory dystonia (LRD) is diagnosed based on clinical presentation, patient history, and physical examination. Key indicators include dyspnea, desynchronized breathing patterns, and laryngoscopic findings that reveal vocal fold adduction during inspiration. Treatment for LRD remains controversial and often yields limited effectiveness.
View Article and Find Full Text PDFBotulinum toxin therapy in Parkinson disease-related lower limb dystonia. An 8 year retrospective review.
Clin Park Relat Disord
June 2024
New York Medical College, Valhalla, NY, USA.
Background: Lower extremity dystonia (LED) is a frequent complication of Parkinson disease (PD). Treatment with botulinum neurotoxinA (BoNTA) over 8 years was retrospectively reviewed.Cases14 patients with LED received an average of 3.
View Article and Find Full Text PDFManaging Lead Fractures in Deep Brain Stimulation for Movement Disorders: A Decade-Long Case Series from a National Neurosurgical Centre.
J Clin Med
December 2024
Hospital Management Department, National Centre for Neurosurgery, 34/1 Turan Avenue, Astana 010000, Kazakhstan.
: Deep brain stimulation (DBS) is an effective treatment for movement disorders, but its long-term efficacy may be undermined by hardware complications such as lead fractures. These complications increase healthcare costs and necessitate surgical revisions. The frequency, timing, and clinical factors associated with lead fractures remain poorly understood.
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