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一名成年患者出现进行性肌肉无力,诊断为散发性晚发型杆状体肌病(SLONM)。

Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness.

作者信息

Paramalingam Shereen, Dyke Jason M, Nossent Johannes C

机构信息

Department of Rheumatology, Sir Charles Gairdner Hospital, Nedlans, Australia.

University of Western Australia School of Medicine, Crawley, Australia.

出版信息

Eur J Rheumatol. 2018 Nov 6;6(2):105-107. doi: 10.5152/eurjrheum.2018.18071. Print 2019 Apr.

DOI:10.5152/eurjrheum.2018.18071
PMID:30407167
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6467323/
Abstract

Sporadic late onset nemaline myopathy (SLONM) is a rare, intractable acquired myopathy that is characterised by progressive muscle weakness and the presence of nemaline rods in myofibres. Unlike the congenital form of nemaline myopathy (NM), there are only few case reports and series on SLONM in the scientific literature. We present a case report of SLONM in a 62-year-old male from a rural town in Western Australia, without any of the conditions often associated with SLONM such as monoclonal gammopathy of uncertain significance or HIV infection. SLONM should be considered in the differential diagnosis of progressive proximal muscle weakness in an adult.

摘要

散发性晚发型杆状体肌病(SLONM)是一种罕见的、难治性获得性肌病,其特征为进行性肌无力以及肌纤维中存在杆状体。与先天性杆状体肌病(NM)不同,科学文献中关于SLONM的病例报告和系列报道很少。我们报告一例来自西澳大利亚州一个乡村小镇的62岁男性SLONM病例,该患者没有任何通常与SLONM相关的疾病,如意义未明的单克隆丙种球蛋白病或HIV感染。在鉴别诊断成人进行性近端肌无力时应考虑SLONM。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/152a/6467323/947d9eb63d24/EJR-6-2-105-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/152a/6467323/85e19224edfc/EJR-6-2-105-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/152a/6467323/947d9eb63d24/EJR-6-2-105-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/152a/6467323/85e19224edfc/EJR-6-2-105-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/152a/6467323/947d9eb63d24/EJR-6-2-105-g02.jpg

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引用本文的文献

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本文引用的文献

1
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.散发性迟发性杆状体肌病:76例临床病理特征及文献复习
Orphanet J Rare Dis. 2017 May 11;12(1):86. doi: 10.1186/s13023-017-0640-2.
2
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.一名患有缓慢进展性成人起病的杆状体肌病且在伴肌动蛋白基因中有新型复合杂合突变的患者。
J Neurol Sci. 2017 Feb 15;373:254-257. doi: 10.1016/j.jns.2016.12.069. Epub 2016 Dec 30.
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Idiopathic inflammatory myositis.
特发性炎性肌病。
Best Pract Res Clin Rheumatol. 2016 Feb;30(1):149-68. doi: 10.1016/j.berh.2016.04.007. Epub 2016 May 26.
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Nemaline myopathies.肌球蛋白病。
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Sporadic late onset nemaline myopathy.散发性晚发型杆状体肌病
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Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).伴有棒状体、核内杆状体及ACTA1基因杂合突变(天冬氨酸154变为天冬酰胺)的肌动蛋白病
Acta Neuropathol. 2004 Sep;108(3):250-6. doi: 10.1007/s00401-004-0888-1. Epub 2004 Jun 24.
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Muscle Z-band ultrastructure: titin Z-repeats and Z-band periodicities do not match.肌肉Z线带超微结构:肌联蛋白Z重复序列与Z线带周期不匹配。
J Mol Biol. 2002 Jun 21;319(5):1157-64. doi: 10.1016/S0022-2836(02)00372-8.
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Nemaline myopathy: a clinical study of 143 cases.杆状体肌病:143例临床研究
Ann Neurol. 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080.
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Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.杆状体肌病的临床和遗传异质性——一种骨骼肌细肌丝疾病。
Trends Mol Med. 2001 Aug;7(8):362-8. doi: 10.1016/s1471-4914(01)02089-5.