Retrospective Analysis of 97 Patients with Myotonic Dystrophy_Chinese Journal of Evidence-Based Medicine

Authors：

LONG Xiuying , LIU Ming

Department of Neurology; West China Hospital; Sichuan University; Chengdu 610041; China;

Corresponding author：

Keywords：

Myotonic dystrophy; Myotonia; Muscle atrophy; Multisystem damage

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Abstract Full text Figures/Tables Video References Cited by

Objective 　To study the clinical characteristics of myotonic dystrophy.
Method 　Patient records in West China Hospital, Sichuan University and China Biological Medicine Database (CBM-disc 1980-1999) were searched. Demographic data, clinical manifestations, laboratory findings of patients with myotonic dystrophy were analyzed.
Results 　Of the total 97 patients, 64 cases were male, and 33 were female. Mean age was 28.5 years old. Ninety percent of patients had a family history. The frequency of symptoms in turn was myotonia (99%), muscle weakness (97%), muscle atrophy (85%), cataract (63%), hair losing or bald (57%) and gonadal atrophy (37%), sexuality disfunction (33%), heart damage (11%), intelligence impairment (11%), hypothyroid or disfunction of adrenal gland (8%), mental state disorders (8%).
Conclusions 　In this group of patients, myotonia, muscle weakness and muscle atrophy were most common symptoms. In addition, some other systemic symptoms were common, such as cataract, hair losing, bald and gonadal atrophy. The clinical manifestations of myotonic dystrophy were complex.

Citation： LONG Xiuying,LIU Ming. Retrospective Analysis of 97 Patients with Myotonic Dystrophy. Chinese Journal of Evidence-Based Medicine, 2004, 04(3): 194-197. doi: Copy

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17.	［9］Wang GR, Xue P, Guo SY. Myotonic dystrophy and muscle electrophysiological appearance with 5 cases report [ J ].Journal of Brain and Nervoas Diseases, 1999; 7(2): 111-112.
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21.	［11］Li XZ , LiJ , Cui SJ , Xie Q. Two cases ofmyotonic dystrophy[J]. Chinese Journal of Practical Internal Medicine,1995; 15(5): 300.
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1. ［1］Hou HG, Chen DR Myotonic dystrophy: the analysis of 21cases from 5 families and 3 sporadic cases [ J ]. Shanghai Medical Journal, 1983; (3): 149-152.
2. 侯辉光,陈达仁强直性肌营养不良--5个家系21例及散发3例的分析[J].上海医学,1983;(3):149-132.
3. ［2］Xian CW, Yang LC. Myotonic dystrophy disease: with a report of10 cases[J]. Tian Jin Medical Journal, 1983; (8): 463-466.
4. 肖崇武,杨露春肌强直性营养不良症(附10例报告)[J].天津医药,1983;(8):463-466.
5. ［3］Jiang XS, Wu QZ, Gao SR. Myotonic dystrophy: A report of 33 cases from 6 families and the investigation of its etiology[J]. Chinese journal of nervous and mental disease, 1986;(4): 203-206.
6. 姜新生,伍期鳟,高素荣.肌强直性营养不良-6个家族33例报告及其病因学研究[J].中国神经精神疾病杂志,1986;(4):203-206.
7. ［4］Xue S, Wang GX, Chen ZQ, An FH. The clinical manifestation and the muscle histochemical changes of two myotonic dystrophy cases [ J]. Journal of China-Japan friendship hospital, 1996; 10(4): 323-326.
8. 薛爽,王国相,陈子磬,安凤华.2例强直性肌营养不良症的临床与肌肉组化表现[J].中日友好医院学报,1996;10(4): 323-326.
9. ［5］Xu YF. One case of myotonic dystrophy associated with paranoid psychosis[J ]. Chinese Journal of psychiatry, 1996; 29 ( 4 ):211.
10. 徐一峰.强直性肌营养不良伴发偏执性精神病一例[J].中华精神科杂志,1996;29(4):211.
11. ［6］Deng BQ, Zheng HM, Xie HJ, Cui Y, Xu JM, Wang Y.The investigation and analysis of 11 myotonic dystrophy cases from one family [ J ]. Chinese Journal of medical genetics,1999; 16(4): 232.
12. 邓本强,郑惠民,谢慧君,崔毅,许金明,王晔.强直性肌营养不良家系11例调查分析[J].中华医学遗传学杂志,1999;16(4):232.
13. ［7］Sun YL , Zou ZQ , Sun YM . 5 cases report of myotonic dystrophy from one family with cardiomyopathy manifestation[J]. Journal of Qiqihaer medical college, 1999; 20(1 ): 82-83.
14. 孙艳丽,邹忠全,孙彦明.以心肌病为主要表现的强直性肌营养不良一个家族5例报告[J].齐齐哈尔医学院学报,1999;20(1):82-83.
15. ［8］Qi Y. The investigation of 11 cases of myotonic dystrophy from two families[J]. Shanxi Medical Journal, 1997; 26(7): 422.
16. 戚英.强直性肌营养不良两个家族11例调查[J].陕西医学杂志,1997;26(7):422.
17. ［9］Wang GR, Xue P, Guo SY. Myotonic dystrophy and muscle electrophysiological appearance with 5 cases report [ J ].Journal of Brain and Nervoas Diseases, 1999; 7(2): 111-112.
18. 王桂荣,薛平,郭书英.强直性肌营养不良及肌电电生理(附5例报告)[J].脑与神经疾病杂志,1999;7(2):111-112.
19. ［10］Jin JM, Liu J. A report of myotonic dystrophy from one family[J]. Chinese journal of neurology and psychiatry, 1995; 28(2): 86.
20. 金建敏,刘捷.强直性肌营养不良一家系报告[J].中华神经精神科杂志,1995;28(2):86.
21. ［11］Li XZ , LiJ , Cui SJ , Xie Q. Two cases ofmyotonic dystrophy[J]. Chinese Journal of Practical Internal Medicine,1995; 15(5): 300.
22. 李秀珍,李嘉,崔志杰,谢强.强直性肌营养不良症2例[J].中国实用内科杂志,1995;15(5):300.
23. ［12］Weglewski A, Jurynczyk J. Current problems in mytonic dystrophy[J]. Neurol Neurochir Pol, 1998; 32(4): 903-911.
24. ［13］Chakova L; Temenlieva V; Geneva I. Myotonic dystrophy:a report of two cases from one family[J]. Folia Med Plovdiv,1999; 41(2): 22-26.

Chinese Journal of Evidence-Based Medicine

Retrospective Analysis of 97 Patients with Myotonic Dystrophy

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