Two cases of severe generalized dystonia in IRF2BPL and response to treatment
Objective: We describe two patients who presented with progressive, generalized dystonia and associated neurodevelopmental regression in early childhood found to have pathogenic variants in IRF2BPL.…Characterization of routine botulinum toxin (BoNT) therapy and patient population in cervical dystonia
Objective: We conducted a survey to characterize real-world treatment of CD patients with focus on treatment duration, clinical parameters and awareness of clinical resistance as…DBS for a patient with KMT2B-SHANK2 related dystonia
Objective: Describe a case of deep brain stimulation (DBS) outcome for a patient with pathogenic variants of Shank2 and KMT2B genes. Background: Prior reports have…Assessment of mood symptoms and influence on disease in cervical dystonia
Objective: To compare mood symptom rating scales and influence of anxiety and depressive symptoms on motor severity and aspects of quality of life. Background: Cervical…Transcranial magnetic resonance-guided focused ultrasound in Lance-Adams syndrome
Objective: The objective is to present the first reported case of a patient with post-hypoxic myoclonus (PHM) who underwent noninvasive MR-guided Focused Ultrasound Treatment (MRgFUS).…Internal globus pallidus deep brain stimulation in ACTB-related deafness-dystonia
Objective: To describe the response to deep brain stimulation (DBS) in a patient with ACTB-related deafness-dystonia syndrome with three years of follow-up and to review…SETTING UP A PEDIATRIC DEEP BRAIN STIMULATION UNIT
Objective: Describe our 2-year experience establishing a pediatric deep brain stimulation (pDBS) service in a tertiary hospital and report our outcomes. Background: DBS is a…Evaluation of Atrophy after Botulinum Toxin injection for Cervical Dystonia by MRI
Objective: Cervical Dystonia (CD) is the most common form of focal dystonia involving the muscles of the neck and sometimes the shoulders. 1 There are several categories…Impact of botulinum toxin treatment on gait in focal dystonia
Objective: To study the effects of botulinum neurotoxin (BTX) treatment on gait characteristics in patients with blepharospasm and cervical dystonia. Background: The impact of focal…Early intervention with deep brain stimulation for children with ε-sarcoglycan myoclonus dystonia
Objective: To evaluate the efficacy and safety of Globus Pallidus Internus DBS (GPi-DBS) in early stages of disease course. Background: SGCE-related myoclonus-dystonia (SGCE-MD) is considered…
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