Estudio de un caso clínico sobre distrofia muscular de duchenne en un paciente pediátrico

Abstract

Duchenne Muscular Dystrophy (DMD) is a muscular pathology that is due to the mutation of the gene that encodes dystrophin, a fundamental protein found in muscle cells, for this reason its absence causes progressive destruction of the muscle. It is common in 1 in 3,600 to 6,000 men and very rarely in women. The objective of the present work was to describe the causal factor and the clinical picture that occurs in DMD. The methodology used consisted of a descriptive study of information gathering in scientific articles that allowed the resolution of the proposed clinical case. In conclusion, with the information obtained, it was specified that the causal factor is the mutation in the X chromosome that leads to the absence of dystrophin. The clinical picture is uniform and is characterized by muscular atrophies, therefore progressive invalidation. One of the main laboratory tests performed for diagnosis is the determination of serum creatine kinase, an enzyme that is 10 to 50 times higher than normal in the case of DMD. Corticosteroids are used as treatment, which in addition to relieving inflammation, prolong the mobility and useful life of the patient.