Update on Duchenne muscular dystrophy

被引:1
作者
Leiva-Cepas, F. [1 ,2 ,3 ,4 ]
Montano Martinez, A. [5 ]
Lopez-Lopez, I [6 ]
机构
[1] Univ Cordoba, Fac Med & Enfermeria, Dept Ciencias Morfol, Secc Histol, Cordoba, Spain
[2] Hosp Univ Reina Sofia, Unidad Gest Clin Anat Patol, Cordoba, Spain
[3] Grp Invest Regenerat Muscular REGMUS, Codigo PAIDI CTS 285, Cordoba, Spain
[4] Inst Maimonides Invest Biomed Cordoba, Grp GC Invest Epidemiol Atenc Primaria 12, Cordoba, Spain
[5] Hosp Montilla, Empresa Publ Hosp Alto Guadalquivir, Cordoba, Spain
[6] Univ Reina Sofia, Serv Nefrol Hosp, Cordoba, Spain
来源
MEDICINA DE FAMILIA-SEMERGEN | 2021年 / 47卷 / 07期
关键词
Duchenne muscular dystrophy; X-linked disease; Recommendations; Steroids; PRIMARY-CARE; MANAGEMENT; DIAGNOSIS; PATIENT;
D O I
10.1016/j.semerg.2021.06.008
中图分类号
R1 [预防医学、卫生学];
学科分类号
1004 ; 120402 ;
摘要
Duchenne muscular dystrophy, DMD* (ICD-9-C: 359.1; ICD-10-ES: G71.01, ORPHA: 98896) is a dystrophic type, autosomal recessive myopathy linked to the X chromosome, low incidence 1/3300, with full penetrance and multi-organ involvement (neuro-muscular, respiratory, digestive and metabolic). It has great clinical variability. Symptoms begin in pediatric age (mobility limitation and early respiratory complications). Respiratory complications reduce the life expectancy of those affected. There is no treatment that modifies its evolution, although corticosteroids and new gene therapies are increasing the half-life of this disease. The role of the Primary Care Physician (PCP) is decisive in the monitoring and control of the complications of DMD, either coordinating the different specialties involved in it. (C) 2021 Sociedad Espanola de Medicos de Atencion Primaria (SEMERGEN). Published by Elsevier Espana, S.L.U. All rights reserved.
引用
收藏
页码:472 / 481
页数:10
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