A clinical, pathological and molecular biology features of 81 patients with myotonic myopathies
10.3760/cma.j.issn.1671-8925.2019.01.011
- VernacularTitle:81例强直性肌病的临床、病理和分子生物学研究
- Author:
Hongrui SHEN
1
;
Taoran JIN
;
Yanxin MENG
;
Zhe ZHAO
;
Qi BING
;
Jing HU
Author Information
1. 河北医科大学第三医院神经肌肉病科
- Keywords:
Myotonic myopathy;
Skeletal muscle biopsy;
Pathology;
Gene analysis
- From:
Chinese Journal of Neuromedicine
2019;18(1):61-65
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical,pathological and molecular biology features of myotonic myopathies.Methods Eighty-one patients with myotonic myopathies,admitted to our hospital from June 2005 to June 2018,were chosen in our study.All patients accepted clinical and skeletal muscle pathology examination,and genetic features of 55 patients were analyzed by molecular biological method.Results (1) All patients suffered from typical myotonia,and electromyography shows typical myotonic discharges;47 patients exhibited myotonic dystrophy (DM) and 34 patients exhibited non-myotonic dystrophy (NDM).(2) In muscle biopsy of DM,typical central nuclei,pyknotic clumps and sarcoplasmic masses were observed;and characteristic pathological changes were not observed in muscle biopsy of NDM.(3) Totally,32 DM1 patients,3 DM2 patients,9 MC patients and 5 paramyotonia congenita patients were confirmed by molecular biology technology;7 independent mutations in the CLCN1 gene and 3 independent mutations in the SCN4A gene were novel mutations.Conclusions (1) Myotonic myopathies are some single gene inheritance diseases with multisystem disorders and their main symptoms include myotonia.(2) Skeletal muscle biopsy is a trustworthy method for definite diagnosis of myotonic myopathies;gene analysis is the gold standard for diagnosis and classification ofmyotonic myopathies.
