[Update on Duchenne muscular dystrophy]

Abstract

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.

Keywords: Distrofia muscular de Duchenne; Duchenne muscular dystrophy; Enfermedad ligada al X; Esteroides; Recomendaciones; Recommendations; Steroids; X-linked disease.