摘要
临床资料患者男性,39岁,9年前出现双足尖抬举费力,能缓慢独立上楼,双小腿肌肉萎缩,上肢不能持重物,手指抓物费力;6年前足尖不能抬起,下蹲站起困难,上楼需扶持,并逐渐加重,平地行走作摇摆状。父母为近亲结婚,其弟弟体健,家族中无类似发病者。于温州医学院附属第二医院就诊查CK2210 IU/L(正常值25~195 IU/L),肌电图示肌源性损害,拟诊“肌肉疾病:肌炎可能”,予激素及B族维生素等治疗,症状无改善。
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2008年第12期869-870,共2页
Chinese Journal of Neurology
参考文献7
-
1王朝霞,高云鹰,张英,卜定方,袁云.Nonaka肌病的GNE基因突变研究[J].中风与神经疾病杂志,2006,23(2):201-203. 被引量:7
-
2中华医学会神经病学分会神经肌肉病学组.包涵体肌炎的诊断标准[J].中华神经科杂志,2003,36(1):65-66. 被引量:24
-
3高云鹰,王朝霞,张巍,袁云.遗传性包涵体肌病[J].中国现代神经疾病杂志,2005,5(6):409-411. 被引量:3
-
4Argov Z, Eisenberg I, Grabov-Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 2003, 60: 1519-1523.
-
5焉传祝,李大年,吴金玲,刘淑萍,谭东,单培彦,徐广润.有镶边空泡的远端肌病九例临床和病理研究[J].中华神经科杂志,2003,36(2):138-141. 被引量:22
-
6Eisenberg I, Avidan N, Potikha T, et al. The UDP-N- acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is mutated in recessive hereditary inclusion body myopathy. Nat Genet, 2001,29: 83-87.
-
7Sparks S, Rakocevic G, Joe G, et al. Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol, 2007, 7: 3.
二级参考文献40
-
1孙琦,张平.包涵体肌炎(附1例报告并文献复习)[J].临床神经病学杂志,1996,9(4):240-241. 被引量:7
-
2[1]Askanas V, Engel WK. New advances in inclusion-body myositis.Curr Opin Rheumatol, 1993, 5:732-741.
-
3[2]Argov Z, Eisenberg I, Grabov-Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 2003,60:1519-1523.
-
4[3]Tomimitsu H, Shimizu J, Ishikawa K, et al. Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.Neurology, 2004, 62:1607-1610.
-
5[4]Kumamoto T, Ito T, Horinouchi H, et al. Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles. Muscle Nerve, 2000, 23:1686-1693.
-
6[7]Uyama E, Uchino M, Chateau D, et al. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscul Disord, 1998, 8:119-125.
-
7[8]Minami N, Ikesoe K, Kuroda H, et al. Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. NeuromusculDisord, 2001, 11:699-702.
-
8[9]van der Sluijs BM, ter Laak HJ, Scheffer H, et al. Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. J Neurol Neurosurg Psychiatry, 2004, 75:1499-1501.
-
9[10]on Tell D, Bruder CE, Anderson LV, et al. Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. Neurogenetics,2003, 4:173-177.
-
10[11]Mahjneh I, Lamminen AE, Udd B, et al. Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy. Acta Neurol Scand, 2004, 110:87-93.
共引文献46
-
1张卫清,吕强,张英谦,张宏,陈雪涛,王健,石进,宋东林.低钾型周期性麻痹的临床及病理研究[J].中华神经科杂志,2004,37(3):203-205. 被引量:37
-
2高素琴,焉传祝,刘淑萍,吴金玲,李大年.单纯型线粒体肌病的临床和病理特点[J].临床神经病学杂志,2005,18(1):7-9. 被引量:9
-
3沈定国,,吴士文.远端型肌病71例的临床及肌肉病理分析[J].中华神经科杂志,2005,38(4):220-223. 被引量:12
-
4周沁.低钾性瘫痪104例临床分析[J].实用医学杂志,2005,21(11):1183-1184.
-
5吕海东,杨斌,秦东香,马晓丽.包涵体肌炎一例报告[J].中华神经科杂志,2005,38(11):728-728. 被引量:3
-
6高云鹰,王朝霞,张巍,袁云.遗传性包涵体肌病[J].中国现代神经疾病杂志,2005,5(6):409-411. 被引量:3
-
7王勤周,焉传祝,刘淑萍,吴金玲,金波,李大年.有镶边空泡远端肌病一家系GNE基因突变分析[J].中华神经科杂志,2005,38(12):759-763. 被引量:6
-
8袁云.骨骼肌疾病的临床病理诊断[J].中华神经科杂志,2006,39(8):505-507. 被引量:12
-
9王朝霞,高云鹰,张英,卜定方,袁云.Nonaka肌病的GNE基因突变研究[J].中风与神经疾病杂志,2006,23(2):201-203. 被引量:7
-
10吕海东,张三军,李增富,秦东香,钱琪,韩凯,马晓丽,宋学云,杨斌.包涵体肌炎的临床与病理特点(附2例报告)[J].临床神经病学杂志,2007,20(3):188-190. 被引量:4
同被引文献13
-
1丁卫江,曾国勇,邓丽影,王春芝,舒毅.有镶边空泡远端肌病合并周围神经病变一例[J].中华神经科杂志,2007,40(5):333-334. 被引量:4
-
2Nonaka I, Sunohara N, Ishiura S, et al. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation[J]. J Neurol Sci, 1981, 51: 141-55.
-
3Argov Z, Yarom R. "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews [J~. J Neurol Sci, 1984, 64: 33-43.
-
4Eisenberg I, Avidan N, Potikha T, et al. The UDP-N- acetylglucosamine 2-epimerase/N-acetyl- mannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy [J]. Nat Genet, 2001, 29: 83-7.
-
5Hinderlich S, Salama I, Eisenberg I, et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy [J]. Neurology, 2002, 59(11): 1689-93.
-
6Huizing M, Krasnewich DM. Hereditary inclusion body myopathy: a decade of progress [J]. Biochim Biophys Acta, 2009, 1792(9): 881-7.
-
7Nonaka I, Murakami N, Suzuki Y, et al. Distal myopathy with rimmed vacuoles[J]. Neuromuscul Disord, 1998, 8: 333-7.
-
8Argov Z, Mitrani-Rosenbaum S. The hereditary inclusion body myopathy enigma and its future therapy[J]. Neurotherapeutics, 2008, 5(4): 633-7.
-
9Jay CM, Levonyak N, Nemunaitis G, et al. Hereditary inclusion body myopathy (HIBM2)[J]. Gene Regul Syst Biol, 2009, 3: 181-90.
-
10Broccolini A, Gidaro T, Morosetti R, et al. Hereditary inclusion- body myopathy: clues on pathogenesis and possible therapy [J]. Muscle Nerve, 2009, 40(3): 340-9.
-
1第十二次全国脑血管病康复学术会议通知[J].中国脑血管病杂志,2009,6(7).
-
2中国康复医学会第12次全国脑血管病康复学术会议通知(第一轮)[J].心脑血管病防治,2009,9(3):164-164.
-
3邢胜军.急性脑梗死1例[J].临床合理用药杂志,2010,3(19):131-131.
-
4周强,易兴阳,池丽芬,池万章.急性大面积脑梗死患者血小板聚集率的动态研究[J].实用医学杂志,2009,25(24):4149-4151. 被引量:9
-
5韩叶芬.老年人跌倒的常见原因及预防措施[J].现代中西医结合杂志,2007,16(1):70-71. 被引量:15
-
6中国康复医学会第十二次全国脑血管病康复学术会议通知[J].温州医学院学报,2009,39(3):212-212.
-
7中国康复医学会第十二次全国脑血管病康复学术会议通知[J].温州医学院学报,2009,39(4):366-366.
-
8中国康复医学会第十二次全国脑血管病康复学术会议通知[J].中国临床神经科学,2009,17(4):435-435.
-
9中国康复医学会第十二次全国脑血管病康复学术会议通知[J].中华神经科杂志,2009,42(7):448-448.
-
10中国康复医学会第十二次全国脑血管病康复学术会议通知[J].中华物理医学与康复杂志,2009,31(6):389-389.