China
Africa
Explore chapters and articles related to this topic
Central nervous system: Adult-onset and psychiatric disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Primary torsion dystonia follows autosomal dominant inheritance in most cases, though with incomplete penetrance in some gene carriers and minimal expression in others; the disorder is more common in Ashkenazi Jews. A single mutation in a specific gene on chromosome 9 has been found to be responsible for almost all typical cases, Jewish and non-Jewish, including most sporadic early-onset cases. Late-onset dystonia is poorly understood, and most cases may not be genetic. Dystonia may also form part of other more general degenerative brain disorders. Dopamine-responsive dystonia, due to a specific molecular defect, is an important, treatable form to recognise, even though it is very rare.
Discussions (D)
Published in Terence R. Anthoney, Neuroanatomy and the Neurologic Exam, 2017
The term “torsion dystonia” was noted in only 2 of the 14 recent clinical neuroscience texts consulted for this discussion. Its usage there suggests that it is likely a derivative of the term “torsion spasm,” subject to the same semantic variations. Gilroy and Meyer state that “The synonyms ‘torsion dystonia’ and ‘dystonia musculorum deformans’ have been used loosely in the past to indicate what are now generally termed the dystonias” (1979, p. 197). Fahn, on the other hand, uses the term “torsion dystonia” more broadly. He refers to dystonia musculorum deformans as idiopathic or hereditary torsion dystonia, which he contrasts with symptomatic torsion dystonia, secondary to a “known pathologic process” (in Rowl, p. 522). In this sense, it would seem that Fahn uses the term “torsion dystonia” more or less synonymously with the term “dystonia,” an impression strengthened by his frequent use of the terms “dystonia” or “symptomatic dystonia” without the modifier “tension” (in Rowl, p. 522–524).
Bernie
Published in Walter J. Hendelman, Peter Humphreys, Christopher R. Skinner, The Integrated Nervous System, 2017
Walter J. Hendelman, Peter Humphreys, Christopher R. Skinner
Bernie was referred to a local neurologist, who, after arranging for a series of investigations, gave her a trial of levodopa/carbidopa 100/10, ½ tablet three times daily (for explanation, see next section). Within 48 hours, there was a dramatic improvement in Bernie’s gait, upper trunk posture and hand-writing. This result eliminated the possibility of idiopathic torsion dystonia as it does not respond to dopamine precursor medications.
Deep brain stimulation for childhood dystonia: current evidence and emerging practice
Published in Expert Review of Neurotherapeutics, 2018
Lior M. Elkaim, Phillippe De Vloo, Suneil K. Kalia, Andres M. Lozano, George M. Ibrahim
Originally created to assess primary torsion dystonia in adults, the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) [21] has been adopted for pediatric use and is now the most commonly reported measure of dystonia impairment. Intended for use in secondary dystonia, the Barry-Albright Dystonia Scale (BADS) is also frequently cited [22]. Myoclonic movements in M-D are generally rated through the Unified Myoclonus Rating Scale (UMRS). Despite its widespread use, the validity and sensitivity of the BFMDRS has been criticized. Authors have highlighted that the BFMDRS does not discriminate between abnormal postures and movements caused by non-dystonic symptoms and is thus limited to the assessment of a single symptom of a movement disorder [23]. Furthermore, given its intended use as an assessment measure in adults, the accuracy of the BFMDRS as a measure of childhood dystonia has been questioned, especially since there are no validity or reliability studies in the pediatric population [20].
Evaluation of dystonia in children and adolescents treated with atomoxetine within the Truven MarketScan database: a retrospective cohort study
Published in Expert Opinion on Drug Safety, 2018
Kristin J. Meyers, Himanshu P. Upadhyaya, Robert Goodloe, Ludmila A. Kryzhanovskaya, Marie A. Liles-Burden, Nicole A. Kellier-Steele, Michele Mancini
The primary end point was incident dystonia, which included the following International Classification of Diseases, 9th Revision (ICD-9-CM) code descriptions: acquired torsion dystonia (333.7), acute dystonia due to drugs (333.72), other acquired dystonia including idiopathic, non-familial dystonia (333.79), blepharospasm (333.81), spasmodic torticollis (333.83), organic writer’s cramp (hand dystonia, 333.84) and other fragments of torsion dystonia (333.89). Dystonia codes from any position within the claims record, not just primary diagnosis, were included. Dyskinesia and genetic/familial forms of dystonia were excluded from the study. Only the first occurrence of dystonia after initiation of medication was counted.
Application of botulinum toxin in pregnancy and its impact on female reproductive health
Published in Expert Opinion on Drug Safety, 2020
Dystonia is a condition characterized by involuntary muscle contraction in one or more regions. It can be classified as idiopathic (primary) or symptomatic (secondary) depending on the cause, or based on location: focal, segmental, multifocal, hemidystonia, or generalized. Idiopathic torsion dystonia typically begins before reproductive age and persists throughout adulthood; therefore, it is a common disease in pregnant women. The application of BoNT in dystonia during pregnancy is typically reported in patients with CD (also known as spasmodic torticollis).