Clinical, familial and hereditary analysis of myotonic dystrophy.
10.3969/j.issn.1672-7347.2011.06.008
- Author:
Zhenfu WU
1
;
Juan YANG
;
Jiqing CAO
;
Zhaohui HU
;
Yixin ZHAN
;
Jing LI
;
Yaqin LI
;
Yanyun WANG
;
Cheng ZHANG
Author Information
1. Department of Neurology, First Affilicated Hospital, Sun-Yat-sen University, Guangzhou 510080, China.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Female;
Humans;
Male;
Myotonic Dystrophy;
diagnosis;
genetics;
Myotonin-Protein Kinase;
Pedigree;
Polymerase Chain Reaction;
methods;
Protein-Serine-Threonine Kinases;
genetics;
Trinucleotide Repeats
- From:
Journal of Central South University(Medical Sciences)
2011;36(6):520-524
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical, familial and hereditary features of myotonic dystrophy to improve the knowledge and provide molecule evidence for gene diagnosis and prenatal diagnosis of myotonic dystrophy or dystrophia myotonia (DM) families.
METHODS:Clinical data of 2 DM families were collected based on the probands. The number of trinucleotide CTG repeat in the 3' untranslated region of myotonic dystrophy protein kinase (DMPK) gene on chromosome 19 was determined by DNA sequence and repeat fragment.
RESULTS:Except for 1 subclinical patient, another 5 patients progressed slowly with the features of myotonic muscular weakness and atrophy. One patient had hatchet face, 1 had cataract and diabetes mellitus, and the other 3 were bald. Electromyologram showed 3 patients had myotonic discharge and myopathic abnormalities. The number of trinucleotide CTG repeat in the 3' untranslated region of DMPK gene of 5 patients exceeded 50.
CONCLUSION:DM can be anticipated. Gene analysis can verify the disease and identify subclinical patients. It helps to prevent the DM births by hereditary consultation performing prenatal diagnosis.
