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Current Opinion in Neurology Aug 1996We review the experimental evidence from genetic and neurophysiological studies on idiopathic and secondary torsion dystonias. We also discuss the treatment of dystonia... (Review)
Review
We review the experimental evidence from genetic and neurophysiological studies on idiopathic and secondary torsion dystonias. We also discuss the treatment of dystonia by botulinum toxin injections and surgical therapy.
Topics: Botulinum Toxins; Brain Stem; Cerebral Cortex; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 9; Dystonia Musculorum Deformans; Humans; Injections, Intramuscular; Jews; Spinal Cord
PubMed: 8858192
DOI: 10.1097/00019052-199608000-00014 -
JAMA Neurology Jun 2015Dystonia is a heterogeneous neurologic disorder characterized by abnormal muscle contractions for which standard medical therapy is often inadequate. For such patients,... (Review)
Review
IMPORTANCE
Dystonia is a heterogeneous neurologic disorder characterized by abnormal muscle contractions for which standard medical therapy is often inadequate. For such patients, therapeutic brain stimulation is becoming increasingly used.
OBJECTIVES
To review the evidence and effect sizes for treating different types of dystonia with different types of brain stimulation and to discuss recent advances relevant to patient selection, surgical approach, programming, and mechanism of action.
EVIDENCE REVIEW
PubMed was searched for publications on the clinical effect of brain stimulation in dystonia up through December 31, 2014. Recent meta-analyses, consensus statements, and evidence-based guidelines were incorporated. Emphasis was placed on deep brain stimulation (DBS) and randomized clinical trials; however, other stimulation modalities and trial designs were included. For each intervention the mean change in dystonia severity, number of patients studied, and evidence of efficacy based on American Academy of Neurology criteria were determined.
FINDINGS
Strong (level B) evidence supports the use of DBS for the treatment of primary generalized or segmental dystonia, especially when due to mutation in the DYT1 gene, as well as for patients with cervical dystonia. Large effect sizes have also been reported for DBS treatment of tardive dystonia, writer's cramp, cranial dystonia, myoclonus dystonia, and off-state dystonia associated with Parkinson disease. Lesser benefit is generally seen in dystonia secondary to structural brain damage. Other brain stimulation techniques, including epidural cortical stimulation and noninvasive brain stimulation, have been investigated, but generally report smaller effect sizes in fewer patients.
CONCLUSIONS AND RELEVANCE
Patients with dystonia that is not adequately controlled with standard medical therapy should be referred for consideration of DBS, especially patients with generalized, segmental, or cervical dystonia. Other less-invasive stimulation modalities require further research before being considered a therapeutic alternative.
Topics: Deep Brain Stimulation; Dystonia Musculorum Deformans; Humans
PubMed: 25894231
DOI: 10.1001/jamaneurol.2015.51 -
Neurology Apr 1988
Topics: Dopamine beta-Hydroxylase; Dystonia Musculorum Deformans; Humans
PubMed: 3352935
DOI: 10.1212/wnl.38.4.666-a -
Current Neurology and Neuroscience... May 2010Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous group of movement disorders.... (Review)
Review
Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous group of movement disorders. Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonias, 2) dystonia-plus syndromes, and 3) paroxysmal dystonias/dyskinesias. We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5. Further, we review current knowledge regarding genetic modifiers and susceptibility factors. Because recognizing and diagnosing monogenic dystonias have important implications for patients and their families with regard to counseling, prognosis, and treatment, we highlight clinical "red flags" of individual subtypes and review guidelines for genetic testing.
Topics: Carrier Proteins; Dystonia Musculorum Deformans; Genetic Predisposition to Disease; Genetic Testing; Humans; Mutation
PubMed: 20425035
DOI: 10.1007/s11910-010-0107-5 -
JAMA Jan 1980
Topics: Child, Preschool; Dystonia Musculorum Deformans; Humans
PubMed: 7351741
DOI: 10.1001/jama.243.4.331a -
Acta Neurochirurgica. Supplement 2007Deep brain stimulation (DBS) at the globus pallidus pars internus (GPi) is an effective treatment for some patients with medically refractory torsion dystonia. In this... (Review)
Review
Deep brain stimulation (DBS) at the globus pallidus pars internus (GPi) is an effective treatment for some patients with medically refractory torsion dystonia. In this chapter we review the classification and treatment of torsion dystonia including the current indications for DBS surgery. Details of the DBS procedure and programming of the DBS devices are discussed. Pallidal DBS is most effective in patients with primary generalized dystonia. Children and adolescents possessing the DYT1 gene mutation may respond best of all. Patients with cervical dystonia may also improve with pallidal DBS but definitive clinical evidence is lacking. As a group, patients with secondary dystonias respond less well to DBS than do patients with primary dystonia; however, patients with dystonia secondary to anoxic brain injury who have grossly intact basal ganglia anatomy, and patients with tardive dystonia may represent secondary dystonia subtypes for whom pallidal DBS is a viable option.
Topics: Deep Brain Stimulation; Dystonia Musculorum Deformans; Globus Pallidus; Humans; Magnetic Resonance Imaging; Microelectrodes; Review Literature as Topic
PubMed: 17691304
DOI: 10.1007/978-3-211-33081-4_21 -
Advances in Neurology 2004
Review
Topics: Adenosine Triphosphate; Age of Onset; Animals; Carrier Proteins; Cell Line; Dystonia Musculorum Deformans; Gene Products, gag; Humans; Immunohistochemistry; Inclusion Bodies; Microscopy, Immunoelectron; Molecular Chaperones; Mutation; Neurons; Transfection
PubMed: 14509659
DOI: No ID Found -
Child's Nervous System : ChNS :... Sep 2007Deep brain stimulation (DBS) at the internal globus pallidus (GPi) is an effective treatment for some patients with medically refractory torsion dystonia. In this... (Review)
Review
INTRODUCTION
Deep brain stimulation (DBS) at the internal globus pallidus (GPi) is an effective treatment for some patients with medically refractory torsion dystonia. In this article, we review the results of pallidal DBS surgery in children with dystonia. Details of the DBS procedure and programming of the DBS devices are discussed.
DISCUSSION
Pallidal DBS is most effective in patients with primary generalized dystonia. Children and adolescents possessing the DYT1 gene mutation may respond best of all. The presence of static dystonic postures and/or fixed orthopedic contractures may limit the functional response to DBS and may require additional surgery.
CONCLUSION
As a group, patients with secondary dystonias respond less well to DBS than patients with primary dystonia. However, patients with dystonia secondary to anoxic brain injury who have grossly intact basal ganglia anatomy may represent a subpopulation for whom pallidal DBS is a viable option.
Topics: Deep Brain Stimulation; Disability Evaluation; Dystonia Musculorum Deformans; Humans; Pediatrics; Severity of Illness Index
PubMed: 17551738
DOI: 10.1007/s00381-007-0382-x -
Neurobiology of Disease May 2011Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal... (Review)
Review
Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and discuss the responsible gene. This article is part of a Special Issue entitled "Advances in dystonia".
Topics: Age of Onset; Dystonia Musculorum Deformans; Humans; Phenotype
PubMed: 21168499
DOI: 10.1016/j.nbd.2010.12.012 -
Current Opinion in Neurology Aug 1998Many different disorders have dystonia as the only or primary sign. The list of causes for dystonia increases yearly and now includes three mapped loci for primary... (Review)
Review
Many different disorders have dystonia as the only or primary sign. The list of causes for dystonia increases yearly and now includes three mapped loci for primary torsion dystonia, although other susceptibility genes are suspected. Study of one of these primary torsion dystonia loci (DYT1) has culminated in the cloning of a gene which codes for a novel protein, torsin A. Physiological and positron emission tomography analyses suggest that dystonia results from impaired inhibition at cortical and subcortical levels; these physiological changes may in turn be due to striatal dysfunction and a mismatch or imbalance between the direct and indirect pathways. Future study of normal and mutant torsin A, as well as the identification of other primary torsion dystonia genes, should help elucidate the mechanisms underlying dystonia.
Topics: Age of Onset; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Dystonia Musculorum Deformans; Genetic Predisposition to Disease; Humans
PubMed: 9725083
DOI: 10.1097/00019052-199808000-00013