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…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-…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…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…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…The Dystonia Coalition Natural History Project: An Available Research Resource
Objective: The purpose of this collaborative, international effort is to provide an available resource containing clinical and video data along with biospecimens for dystonia research.…Late-Onset Dopa-Responsive Dystonia: A Case Report
Objective: To present a rare cause of treatable dystonia with onset during adulthood. Background: L-Dopa-responsive dystonia is an inherited disorder characterized by early-onset dystonia affecting…De-novo ß-actin mutation as a cause of seemingly sporadic dystonia-deafness syndrome responsive to deep-brain stimulation
Objective: To elucidate the cause of dystonia and deafness in a 37-year-old woman and to evaluate the response to deep brain stimulation (DBS). Background: Dystonia-deafness…Case of percussionist dystonia in playing the janggu, a traditional Korean percussive instrument
Objective: To describe a case of task-specific dystonia. Background: Musician’s dystonia(MD) is a type of task-specific dystonia that occurs during playing musical instruments. MD may…Development of novel treatment strategies for SGCE dystonia using patient-derived induced pluripotent stem cells (iPSCs)
Objective: What are the underlying pathological mechanisms of myoclonus dystonia (DYT-SGCE)? Background: Myoclonus dystonia (DYT-SGCE, DYT11) is a combined dystonia characterized by alcohol-sensitive myoclonic-like appearance…
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