The Proportion and Clinical Feature of Duchenne Muscular Dystrophy With Autosomal Recessive Inheritance
- VernacularTitle:常染色体隐性遗传的类Duchenne肌营养不良临床特征及其发生比率的估计值分析
- Author:
Hongwei MA
;
Yingyu WU
;
Yang WANG
;
Wei GAO
;
Yanning XUE
- Publication Type:Journal Article
- From:
Journal of China Medical University
2001;30(1):59-60,63
- CountryChina
- Language:Chinese
-
Abstract:
Objective：Our aim was to investigate the proportion of autosomal recessive (AR) inheritance among families with patients with Duchenne muscular dystrophy (DMD) and clinical feature in patients with AR form of DMD. Methods:A total of 193 families was studied， 8 of them with at least one girl with “DMD - like” phenotype and 185 with only boys with this kind of phenotype. Based on the number of families with at least one affected girl and the number of patients per sibship among these pedigrees, the proportion of families with DMD inherited as an AR trait was estimated. The clinical examination, family history and serum creatine-kinase were studied in 11 patients diagnosed as AR form of DMD. Results: The proportion of families with AR form of DMD was estimated as 9.4%. The average age of being able to walk is (1.47±1.00) year, serum creatine-kinase levels were (2785.10±1500.29) U/L. The clinical symptom occurred at the average age of (8.11±4.32) year in patients with AR form of DMD. Conclusion： The AR form of muscular dystrophy and DMD not be distingushed clinically. Some families with only affected boys diagnosed as typical DMD, in fact, have the AR form of the disease. This study is very useful for genetic consulting.
