共查询到20条相似文献,搜索用时 15 毫秒
1.
2.
3.
4.
6.
7.
Dopa-responsive dystonia (DRD) has a classic presentation of childhood or adolescent-onset dystonia, mild parkinsonism, marked diurnal fluctuations, improvement with sleep or rest, and a dramatic and sustained response to low doses of L-dopa without motor fluctuations or dyskinesias. However, there have been many papers on patients with a wide range of features, which report them as DRD mainly because they had dystonic syndromes with L-dopa responsiveness. Many mutations in the dopaminergic system have been found as molecular genetic defects. Therefore, the clinical and genetic spectra of DRD are unclear, which lead to difficulties in diagnostic work-ups and planning treatments. We propose the concept of DRD and DRD-plus to clarify the confusion in this area and to help understand the pathophysiology and clinical features, which will help in guiding diagnostic investigations and planning treatments. We critically reviewed the literature on atypical cases and discussed the limitations of the gene study. 相似文献
8.
Scott A. Norris MD Hyder A. Jinnah MD PhD Christine Klein MD Joseph Jankovic MD Brian D. Berman MD MS Emmanuel Roze MD PhD Abhimanyu Mahajan MD MHS Alberto J. Espay MD MSc Avinash V. Murthy Victor S.C. Fung PhD FRACP Mark S. LeDoux MD PhD Florence C.F. Chang MBBS FRACP Marie Vidailhet MD PhD Claudia Testa MD PhD Richard Barbano MD PhD Irene A. Malaty MD Tobias Bäumer MD Sebastian Loens MD Laura J. Wright Joel S. Perlmutter MD 《Movement disorders》2020,35(11):2086-2090
9.
10.
11.
12.
13.
14.
15.
Dystonia, a hyperkinetic movement disorder, is characterized by involuntary muscle spasms leading to abnormal postures. Dystonic syndromes are classified by etiology (primary vs. secondary), age of onset (early vs. late onset) or spread of symptoms (focal, segmental, generalized). Clinically, young-onset dystonia is rare, often inherited and tends to spread to become generalized. In contrast, adult-onset dystonia is frequent, typically sporadic and remains focal. In recent years, 15 genes associated with dystonia have been identified and classified as DYT loci. Of these, DYT1 is the most frequent, causing early-onset generalized dystonia. Pathophysiology remains ill understood but basal ganglia dysfunction is thought to play an important role. Treatment remains symptom-oriented. A trial of levodopa is recommended in young-onset cases. In focal forms, botulinum toxin injections are helpful. Anticholinergics may be beneficial. In severe cases deep brain stimulation may be considered. 相似文献
16.
William Dauer 《Neurotherapeutics》2014,11(4):807-816
Isolated inherited dystonia—formerly referred to as primary dystonia—is characterized by abnormal motor functioning of a grossly normal appearing brain. The disease manifests as abnormal involuntary twisting movements. The absence of overt neuropathological lesions, while intriguing, has made it particularly difficult to unravel the pathogenesis of isolated inherited dystonia. The explosion of genetic techology enabling the identification of the causative gene mutations is transforming our understanding of dystonia pathogenesis, as the molecular, cellular and circuit level consequences of these mutations are identified in experimental systems. Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL). 相似文献
17.
18.
Oral medication, botulinum toxin injections, and deep brain stimulation are the current mainstays of treatment for dystonia. In addition, physical and other supportive therapies may help prevent further complications (eg, contractures) and improve function. This review discusses evidence-based medical treatment of dystonia with an emphasis on recent advances in treatment. We will also review the current treatment approaches and suggest ways in which these therapies can be applied to individuals with dystonia. 相似文献
19.
Clinical Trials for Treatment of Primary Generalized Epilepsies 总被引:3,自引:2,他引:1
Edward Faught 《Epilepsia》2003,44(S7):44-50