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101.
目的 对伴痉挛性疼痛脊髓小脑性共济失调3型(SCA3)一家系进行临床表现及基因检测分析,探讨其临床和遗传特征,及其痉挛性疼痛的治疗方法。方法 通过对SCA一家系先证者临床表现、基因检测确定SCA3亚型;检测家系成员有关SCA3基因;分析该家系中患者的临床表现、遗传特征;对伴肌肉痉挛的患者给予加巴喷丁胶囊治疗并观察疗效。结果 该家系5代人中,在世的4位患者,其共同表现为小脑性共济失调、口齿不清、腱反射亢进、眼睑退缩,其中2人伴有不同程度肌肉痉挛性疼痛。先证者具有认知功能障碍。先证者及其无症状女儿和另一患者检测SCA3相关基因的CAG重复数分别为72、76、78次。2例伴肌肉痉挛疼痛的患者,接受加巴喷丁胶囊治疗,症状缓解明显。结论 SCA3具有临床表现和遗传异质性,同时加巴喷丁胶囊对缓解SCA3伴发的肌肉痉挛可能有效。 相似文献
102.
目的血液透析相关性肌痉挛的发生机制至今尚未明确,本研究探讨内皮功能紊乱与血液透析相关性肌痉挛的相关性。方法共收集15例血液透析中频发肌痉挛(A组)和12例无肌痉挛发作史(B组)的维持性血液透析患者。于2个月的观测期内记录各组患者血液透析相关性肌痉挛的发作次数,并于观测期内透析间日检测肱动脉血流介导的血管舒张功能(F10w—mediated dilatations,FMD)和血浆血管性假性血友病因子(vWF)。结果在2组基本状况基本一致的情况下,于观察期内,A组的血液透析相关性肌痉挛发作次数明显高于B组(6.8±0.5比1.2±0.1次/4周,t=38.05,P〈0.01)。检测和统计分析发现,A组患者的FMD显著低于B组患者(6.9±2.5比12.4±2.3,t一5.88,P〈0.01),而vWF的水平明显高于B组(235.7±56.2比133.7±18.3,t=6.02,尸〈0.0i)。统计分析还表明,FMD与患者的肌痉挛次数显著负相关(r=-0.61,P〈0.05),而vWF与患者的肌痉挛次数显著正相关(r=O.55,P〈0.05)。结论血液透析相关性肌痉挛可能与患者的内皮功能紊乱相关,改善患者内皮功能可能有利于避免血液透析相关性肌痉挛。 相似文献
103.
Vasiliki Koukouni MD Enza Maria Valente MD PhD Carla Cordivari MD Kailash P. Bhatia MD Niall P. Quinn MD 《Movement disorders》2008,23(13):1913-1915
Inherited myoclonus dystonia (M‐D, DYT11) is an autosomal dominant dystonia‐plus syndrome, which in many families is caused by mutations in the SGCE/ (epsilon‐sarcoglycan gene. We present a family with M‐D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult‐onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol‐sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed. © 2008 Movement Disorder Society. 相似文献
104.
Janey Prodoehl Colum D MacKinnon Cynthia L Comella Daniel M Corcos 《Movement disorders》2006,21(1):18-27
Cortical activation is reduced when patients with focal dystonia perform movements that do not induce dystonic posturing. This finding suggests that the cortical drive to muscles may in some circumstances actually be reduced not increased, as suggested by basal ganglia models of dystonia as a hyperkinetic disorder. The purpose of this study was to examine flexor and extensor strength at the wrist (a clinically affected joint) and elbow (a nonclinically affected joint) in 18 patients with primary focal hand dystonia compared to matched control subjects. We measured peak torque from maximum voluntary contractions, and agonist and antagonist muscle activation by means of surface electromyograms. Patients were significantly weaker than controls at both the elbow and wrist joints and in both flexors and extensors compared to controls. Peak elbow flexion torque was, on average, 14.4% lower in the dystonic compared to the control group, elbow extensor peak torque was 28.6% lower, wrist flexor peak torque was 17.4% lower, and wrist extensor peak torque was 20.7% lower. Strength did not differ as a function of clinical severity. Reductions in peak torque were accompanied by reduced agonist activation, although this finding only reached statistical significance at the elbow. The amount of co-contraction of antagonistic muscles was not significantly different between the two groups. These results are discussed in the context of dystonia as a disorder resulting from dysfunction of basal ganglia output. 相似文献
105.
106.
Barbara Illowsky Karp 《Toxins》2012,4(11):1404-1414
The safety and efficacy of botulinum toxin for the treatment of focal hand and cranial dystonias are well-established. Studies of these adult-onset focal dystonias reveal both shared features, such as the dystonic phenotype of muscle hyperactivity and overflow muscle contraction and divergent features, such as task specificity in focal hand dystonia which is not a common feature of cranial dystonia. The physiologic effects of botulinum toxin in these 2 disorders also show both similarities and differences. This paper compares and contrasts the physiology of focal hand and cranial dystonias and of botulinum toxin in the management of these disorders. 相似文献
107.
108.
Introduction: Although highly prevalent and painful, night‐time calf muscle cramping is poorly understood, and no treatment has shown consistent efficacy or safety. Methods: One hundred sixty adults were recruited from New South Wales, Australia, including 80 who had night‐time calf cramping at least once per week and 80 age‐ and gender‐matched adults who did not. Participants were assessed using reliable tests of lower limb strength, flexibility, morphometrics, circulation, and sensation, and were questioned about health and lifestyle factors, diet, medications, exercise, symptomatology, sleeping habits, and footwear. Results: Conditional logistic regression identified 3 factors independently associated with night‐time calf muscle cramps: muscle twitching (OR 4.6, 95% CI 1.6–15.5, P = 0.01); lower limb tingling (OR 4.1, 95% CI 1.6–10.3, P = 0.003); and foot dorsiflexion weakness (OR 1.02, 95% CI 1.01–1.03, P = 0.002), which represented other measures of lower limb weakness in the model. Conclusions: Night‐time calf muscle cramps were associated with markers of neurological dysfunction and potential musculoskeletal therapeutic targets. Muscle Nerve 47:339‐343, 2013 相似文献
109.
Tina Islam Andreas Kupsch Harald Bruhn Christian Scheurig Sein Schmidt Karl-Titus Hoffmann 《Neurological sciences》2009,30(3):219-226
Functional magnetic resonance imaging was used to characterize patterns of cortical activation in response to sensory and
motor tasks in patients with writer’s cramp. 17 patients and 17 healthy subjects were examined during finger-tapping, index
finger flexion, and electrical median nerve stimulation of both hands during electromyographic monitoring. SPM2 was used to
evaluate Brodmann area (BA) 4, 1, 2, 3, 6, 40. Patients showed decreased activation in the left BA 4 with motor tasks of both
hands and the left BA 1–3 with right finger-tapping. With left finger-tapping there was bilateral underactivation of single
areas of the somatosensory cortex. Patients exhibited decreased activation in the bilateral BA 6 with left motor tasks and
in the right BA 6 with right finger-tapping. Patients had decreased activation in bilateral BA 40 with finger-tapping of both
hands. The findings suggest decreased baseline activity or an impaired activation in response to motor tasks in BA 1–4, 6,
40 in patients with writer’s cramp for the dystonic and the clinically unaffected hand. 相似文献
110.
Summary We performed a comprehensive literature search of clinical studies published between 1989 and 2007 concerning the use of botulinum
neurotoxin (BoNT) in the treatment of writer’s cramp (WC). Publications were categorized as Classes I–IV using the scale developed
by the Therapeutics and Technology Assessment (TTA) subcommittee of the American Academy of Neurology. Our search resulted
in 17 clinical publications discussing the treatment of WC with BoNT. The literature search results were: one publication
being Class I, two being Class II, 11 being Class III, and three being Class IV.
Correspondence: Khashayar Dashtipour, Department of Neurology, Loma Linda University, Faculty Medical Offices, 11370 Anderson
Street, Suite 240, Loma Linda, CA 92354, USA 相似文献