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…Interrater Agreement for Movement Disorder Classification in Children with Mixed Movement Disorders
Objective: To determine interrater agreement on the classification component of the Movement Disorders-Childhood Rating Scale (MD-CRS). Background: The MD-CRS consists of three parts: classification, general assessment, and…Idiopathic Upper Limb Dystonia – Time for a better understanding
Objective: This cross-sectional study examined the clinical and demographic features of idiopathic adult-onset upper limb dystonia (ULD) related to onset site, spread, and task-specificity in…Pantothenate kinase associated neurodegeneration: A familial case report of two sisters with severe dystonia
Objective: To report a familial case of severe dystonia associated with Pantothenate kinase associated neurodegeneration (PKAN). Background: Pantothenate kinase associated neurodegeneration (PKAN) is named previously…
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