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,…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.…Comprehensive Screening of Genetic, Genomic, Mitochondrial, and Microbiome Associations with Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: Establish novel molecular predictors of phenotypic variation using screening of genomic, transcriptomic, mitochondrial, microbiome, and clinical features. Background: Pantothenate Kinase Associated Neurodegeneration (PKAN), also…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…KMT2B-related dystonia (DYT28) and Klippel-Feil Syndrome: A new association?
Objective: To report the association of lysine-specific histone-methyltransferase 2B gene (KMT2B)-related dystonia (DYT28) and Klippel-Feil Syndrome (KFS). Background: Dystonia is a hyperkinetic movement disorder characterized…Self-Perception of Dysphagia Before and After Botulinum Toxin Injection for Cervical Dystonia
Objective: To determine if individuals with cervical dystonia perceive changes in swallowing skills following botulinum toxin (BoTN) injection. Background: Cervical dystonia (CD) is known to…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…Sensory Trick in Oromandibular and Tongue Dystonia in Patient with Wilson’s Disease
Objective: The aim of the case report is to demonstrate an unusual clinical feature of secondary dystonia. Background: A sensory trick (ST) is a voluntarily…KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Objective: Clarifying clinical phenotype, molecular genetic features and evolution with deep brain stimulation (DBS) of KMT2B related disease. Background: Heterozygous mutations in KMT2B are associated…Fatigue in patients with focal and segmental dystonia
Objective: To determine relation of fatigue to depression, anxyety and sleep disorder in patients with focal and segmental dystonia. Background: Dystonia is movement disorder characterised…
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