Clinical features and genetic susceptibility of the familial myasthenia gravis
- VernacularTitle:家族性重症肌无力的临床及遗传易患性
- Author:
Haiping WANG
;
Shuhui WANG
;
Zhiqiang CONG
- Publication Type:Journal Article
- Keywords:
Myasthenia gravis;
Genetic predisposition to disease;
Polymorphism (genetics);
HLA-DQ antigens
- From:
Chinese Journal of Neurology
2005;0(08):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To describe the clinical features and genetic susceptibility of the familial myasthenia gravis (FMG) patients. Methods The clinical data of 47 FMG patients and 2953 sporadic myasthenia gravis (SMG) patients from 1977 to 2003 were analyzed retrospectively, and 15 FMG patients, 36 SMG patients and 47 healthy controls were investigated for human leukocyte antigen (HLA)-DQA1 genotyping by polymerase chain reaction-sequence specific primers. Results FMG was an autoimmune disorder disease and immunosuppressive therapy was as highly effective in FMG as in SMG. In all patients, 11(23.4%) cases improved significantly, 14(29.8%) cases relieved with only 5 mg prednidone, and 20(42.6%) cases relieved completely. Most FMG occurred in siblings and familial members within 2 generations, and no sexual difference was found. These suggested it should be atypical Mendel’s rules. Onset and clinical features of patients within the same family often had little difference. As compared with the SMG patients, the frequence of DQA1 *0301 allele was higher in FMG patients, especially in the ocular form, and the differences had statistical significance(40.0% vs 19.4%, P
