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面肩肱型肌营养不良的临床特点及疾病严重程度影响因素分析

艳丽 张(太原钢铁(集团)有限公司总医院;山西医科大学第六医院NICU,山西太原)
玉琴 叶(吉林大学第一医院神经内科,吉林长春)

摘要

目的 分析面肩肱型肌营养不良(FSHD)患者的临床特点及疾病严重程度影响因素,利于早期诊断。方法 回顾性分析30例FSHD患者的临床资料,包括常见的首发症状、临床体征、肌酶、肌电图及家系特点;进行疾病严重程度分级,分析起病年龄及病程与疾病严重程度的关系。结果 1.面肩肱型肌营养不良病情进展缓慢,主要首发症状为面肌无力;最常见的体征为翼状肩胛;2.疾病严重程度等级主要集中在2-7级,起病年龄越早,疾病严重程度越重。3.家族内成员临床表现不尽相同,发病年龄逐代提前。结论:FSHD患者临床表现变异较大,最常受累肌肉为面肌和肩胛带肌;起病年龄与疾病严重程度呈负相关性;家族内成员发病符合遗传早现现象。

关键词

肩肱型肌营养不良,临床特点,疾病严重程度,影响因素

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参考

贾建平,陈生弟,神经病学[M].第8版.北京:人民卫生出版社, 2018:502.

DeSimone AM, Pakula A, Lek A, et al. Facioscapulohumeral Muscular Dystrophy. Compr Physiol 2017, 7(4): 1229-1279.

沈乃君,面肩肱型肌营养不良患者临床特点,硕士学位论文,2008,4,17.

Johnson NE, Ankala A. Evolving genetic heterogeneity of facioscapulohumeral muscular dystrophy. Neurology 2020, 94(23): 1011-1012.

林晓英,面肩肱型肌营养不良的临床及病理学特点及血管因素在本病发病机制中的作用研究,博士学位论文,2011,5,8.

Schätzl T, Kaiser L, Deigner HP. Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update. Orphanet J Rare Dis 2021, 16(1): 129.

Goselink Rianne J M,Mul Karlien,van Kernebeek Caroline R, et al. Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.Neurology,2019 Jan 22;92(4):e378-e385.

G. Yamanaka, K. Goto, T. Matsumura, et al. Tongue atrophy in facioscapulohumeral muscular dystrophy. Neurology.2001,(57): 733–735.

Jeffrey M. Statland, MD and Rabi Tawil. Facioscapulohumeral Muscular Dystrophy. Neurology,2016 Dec 5; 22(6): 1916–1931.

Banerji CRS, Henderson D, Tawil RN. Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity. Hum Mol Genet 2020, 29(16): 2746-2760.

Shree Pandya, Wendy M King, Rabi Tawil. Facioscapulohumeral Dystrophy. Physical Therapy, 2008,88(1):105-113.

Lim KRQ, Nguyen Q, Yokota T. DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy. Int J Mol Sci 2020, 21(3):729.

Hamel Johanna,Tawil Rabi. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments. Neurotherapeutics, 2018,15(4):863-871.

Banerji CRS, Zammit PS. Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7. EMBO Mol Med 2021, 13(8): e13695.

Wohlgemuth M, Lemmers RJ, Jonker M, etal. A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Neurology. 2018 Jul 31;91(5):e444-e454.



DOI: http://dx.doi.org/10.12345/yzlcyxzz.v5i1.10176

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