Compound heterozygous mutation of the Beta galactosidase 1 gene presenting with familial dystonia and spondylo-epiphyseal dysplasia
Objective: To describe a family with dystonia and spondylo-epiphyseal dysplasia Background: Childhood onset Generalized dystonia is usually associated with genetic causes. Method: We present a…Increased Prevalence of Thyroid Disease in Cervical Dystonia
Objective: This study evaluated the hypothesis that autoimmune disorders may be more common in cervical dystonia (CD) than neurological controls. Background: Although there are many…Dystonic tremor: one symptom, different etiologies: About three cases
Objective: To recall some clinical situations and causes of dystonic tremor (DT). Background: DT is a tremor produced by dystonic muscle contraction. It is an…Benefits of Treatment with OnabotulinumtoxinA in Naive and Non-naive Patients with Cervical Dystonia are Sustained over Time: Preliminary Completer Analysis from CD PROBE
Objective: This analysis evaluated the sustained effects of onabotulinumtoxinA in patients with CD who were naive or non-naive to botulinum toxin at enrollment in CD…Tremor in Writer’s Cramp Patients
Objective: To know the prevalence and clinical characteristics of tremor in writer's cramp patients. Background: Tremor is one of the important motor phenotypes of dystonia,…Precision Medicine in Neurodegeneration associated with Pantothenate kinase (PKAN) , its possible?
Objective: The objective of this review is to open a discussion on the usefulness of the use of cell models derived from patients as a…Cluster headache associated with secondary unilateral blepharospasm : A Case Report
Objective: We describe a case of a 31 year old lady with cluster headache associated with secondary unilateral spasm of left eyelid resulting in closure…DNMSQuest: a simple tool for identifying mood disorders in cervical dystonia?
Objective: To compare DNMSQuest scores with validated measures of mood disorder in cervical dystonia patients attending a hospital botulinum toxin clinic. We wished to determine…Pallidal Stimulation in children with monogenic dystonia
Objective: To evaluate the efficacy and safety of Globus Pallidus Internus deep brain stimulation (GPi-DBS) in children with different forms of monogenic dystonia operated by…Improvement of non-motor symptoms and quality of life after DBS stimulation for refractory dystonia: a one-year follow-up
Objective: To describe the non-motor symptoms (NMS) after Deep Brain Stimulation (DBS) surgery for refractory generalized inherited/idiopathic dystonia in a prospective study. Background: DBS is…
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