Comparison of Dystonia Rating Scales in Children with Primary (Isolated) Dystonia
Objective: To test an age-independent video protocol in children with primary dystonia and to test the validity and utility of the Burke-Fahn-Marsden Dystonia Rating Scale…Complex patterns of dyskinesias in patients chronically treated with enterally administered levodopa/carbidopa gel
Objective: Report cases of biphasic dyskinesia in patients with advanced Parkinson's disease. Background: Diphasic dyskinesia (DD) is a complex pattern of levodopa (LD) induced diskynesia…A New Complex dystonic presentation of a rare gene – CACNA1B and its response to Levodopa
Objective: We report a case of complex dystonia with the rare gene- CACNA1B. Background: CACNA1B gene has previously been reported as the cause of myoclonus-…Characterising Oromandibular Dystonia in Multiple System Atrophy: A video analysis
Objective: To characterise craniofacial manifestations in patients with MSA and explore the relationship between OMD and other related symptoms and treatment. Background: According to the…Endophenotyping adult-onset isolated cervical dystonia: Does period of onset of mood disorder matter?
Objective: We aim to characterize clinical and demographic features pertaining to the time of onset of mood disorder in CD patients. Background: Mood disorder frequently…Neuropsychiatric non-motor manifestations in patients with focal dystonia
Objective: We aimed to evaluate the neuro-psychiatric manifestations in focal dystonia patients. Background: Idiopathic focal dystonia is one of the most common forms of dystonia…Prevalence of Arm Tremor Associated With Dystonia (Arm-TAWD) in patients with Adult-onset Isolated Cervical Dystonia in an Irish population.
Objective: The aim of the study was to determine whether Arm-TWAD affects HrQoL in patients with adult-onset isolated cervical dystonia (AOIFD-CD). Background: TAWD is tremor…PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort
Objective: Applying segmental bioimpedance testing to assess peripheral metabolic alterations in PKAN. Background: PKAN is a rare autosomal recessive disorder with >50 different mutations in…Prevalence of Spread of Dystonia and its effect on health-related quality of life in an Irish population with adult-onset isolated cervical dystonia.
Objective: We aim to characterize clinical and demographic features and assess prevalence of spread of dystonia in relation to health-related quality of life in CD…Phenotypic analysis of subjects with homozygous and compound heterozygous PANK2 mutations in a single extended pedigree from the Dominican Republic (DR) PKAN cohort
Objective: Whole exome sequencing and genotypic screening of homozygous and heterozygous PANK2 mutations in the Dominican Republic. Background: PKAN affects 1 in 1,000,000 people worldwide,…
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