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球部脊髓性肌萎缩症(肯尼迪病)对免疫球蛋白有反应吗?

Bulbospinal muscular atrophy (Kennedy disease) responsive to immunoglobulins?

作者信息

Poustka Katharina, Pollanz-Petrovic Sabine, Lindeck-Pozza Elisabeth, Finsterer Josef

机构信息

Department of Neurology Kaiser Franz Josef Spital Vienna Austria.

Krankenanstalt Rudolfstiftung Messerli Institute Vienna Austria.

出版信息

Clin Case Rep. 2020 Apr 23;8(7):1223-1225. doi: 10.1002/ccr3.2899. eCollection 2020 Jul.

DOI:10.1002/ccr3.2899
PMID:32695362
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7364100/
Abstract

A 61 year old man with facial diplegia, quadruparesis, tongue atrophy/fasciculations, bulbar speech, muscle weakness/wasting, hypotonia, tremor, dysdiadochokinesia, absent tendon reflexes, fasciculations, and gynecomastia, received immunoglobulins for suspected immune-neuropathy with limited benefit. After reconsideration, Kennedy disease was diagnosed upon 44 CAG repeats in . In conclusion, immunoglobulins exhibit limited benefit on immune-neuropathy in patients with coexisting KD.

摘要

一名61岁男性,患有面瘫、四肢瘫、舌肌萎缩/肌束震颤、延髓性言语、肌肉无力/萎缩、肌张力减退、震颤、轮替运动障碍、腱反射消失、肌束震颤和男性乳房发育,因疑似免疫性神经病接受免疫球蛋白治疗,但获益有限。经重新评估,基于雄激素受体基因中44个CAG重复序列诊断为肯尼迪病。总之,免疫球蛋白对合并肯尼迪病的患者的免疫性神经病疗效有限。

相似文献

1
Bulbospinal muscular atrophy (Kennedy disease) responsive to immunoglobulins?球部脊髓性肌萎缩症(肯尼迪病)对免疫球蛋白有反应吗?
Clin Case Rep. 2020 Apr 23;8(7):1223-1225. doi: 10.1002/ccr3.2899. eCollection 2020 Jul.
2
[X-chromosomal bulbospinal muscular atrophy (Kennedy syndrome)].[X染色体连锁性球脊髓性肌萎缩症(肯尼迪综合征)]
Schweiz Med Wochenschr. 1998 May 23;128(21):817-23.
3
Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy's Disease).脊髓延髓肌肉萎缩症(肯尼迪病)的发病表现
J Mol Neurosci. 2016 Mar;58(3):321-9. doi: 10.1007/s12031-015-0663-x. Epub 2015 Oct 19.
4
Perioral and tongue fasciculations in Kennedy's disease.面口及舌肌束颤,见于肯尼迪病。
Neurol Sci. 2018 Apr;39(4):777-779. doi: 10.1007/s10072-017-3170-8. Epub 2017 Nov 4.
5
[A family with probable autosomal dominant bulbospinal muscular atrophy with gynecomastia].
Rinsho Shinkeigaku. 1999 Nov;39(11):1135-7.
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[Two brothers with very late onset of muscle weakness in X-linked recessive spinal and bulbar muscular atrophy].[两兄弟患X连锁隐性脊髓延髓肌萎缩症,肌无力发病很晚]
Rinsho Shinkeigaku. 2009 Jan;49(1):22-6. doi: 10.5692/clinicalneurol.49.22.
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Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy.肯尼迪病(X连锁隐性球脊髓神经元病):从病理生理学到治疗的全面综述。
Rev Neurol (Paris). 2017 May;173(5):326-337. doi: 10.1016/j.neurol.2017.03.019. Epub 2017 May 1.
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Genotype and clinical phenotype analysis of a Family with Kennedy disease.肯尼迪病家系的基因型与临床表型分析。
Medicine (Baltimore). 2023 Apr 14;102(15):e33502. doi: 10.1097/MD.0000000000033502.
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[X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects].[X染色体球部脊髓神经病(X-BSN,肯尼迪综合征):一种具有重复三联体序列的疾病。病例报告、鉴别诊断及分子遗传学方面]
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本文引用的文献

1
Clinical manifestations and AR gene mutations in Kennedy's disease.肯尼迪病的临床表现及雄激素受体基因突变
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2
Kennedy Disease Misdiagnosed as Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes (POEMS) Syndrome: A Case Report.肯尼迪病误诊为多神经病、器官肿大、内分泌病、单克隆丙种球蛋白病和皮肤改变(POEMS)综合征:一例报告
Med Princ Pract. 2016;25(3):286-9. doi: 10.1159/000442822. Epub 2015 Nov 30.
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Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy.脊髓延髓肌肉萎缩症的诊断性临床、电诊断及肌肉病理学特征
J Mol Neurosci. 2016 Mar;58(3):330-4. doi: 10.1007/s12031-015-0684-5. Epub 2015 Nov 16.
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Rapidly worsening bulbar symptoms in a patient with spinobulbar muscular atrophy.脊髓延髓肌肉萎缩症患者出现快速恶化的延髓症状。
Neurol Int. 2013 Dec 4;5(4):e21. doi: 10.4081/ni.2013.e21. eCollection 2013.
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Current status of treatment of spinal and bulbar muscular atrophy.脊髓性肌萎缩症的治疗现状。
Neural Plast. 2012;2012:369284. doi: 10.1155/2012/369284. Epub 2012 Jun 7.
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Perspectives of Kennedy's disease.肯尼迪病的观点。
J Neurol Sci. 2010 Nov 15;298(1-2):1-10. doi: 10.1016/j.jns.2010.08.025. Epub 2010 Sep 16.
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A study of three patients with amyotrophic lateral sclerosis and a polyneuropathy resembling CIDP.一项针对三名患有肌萎缩侧索硬化症且伴有类似慢性炎症性脱髓鞘性多发性神经病(CIDP)的多神经病患者的研究。
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Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease).脊髓延髓肌萎缩症(肯尼迪病)中的感觉受累情况。
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[X-linked recessive bulbospinal neuronopathy--Kennedy's syndrome].[X连锁隐性延髓脊髓神经元病——肯尼迪综合征]
Tidsskr Nor Laegeforen. 1999 Apr 30;119(11):1591-4.