Distrofia muscular Duchenne

Abstract

The objective of this work was to analyze the clinical case of a 13-year-old male patient from the city of Archidona, who was diagnosed with Duchenne muscular dystrophy at the age of 7 years, currently under treatment with Prednisone and IECAS as cardioprotector. We have to take into account that Duchenne Muscular Dystrophy is a type of progressive hereditary neuromuscular pathology, which manifests itself in childhood; 1 out of every 3500 to 6000 male children present it. Dystrophin is a protein specific to the muscle structure, encoded by a gene that is located on the X chromosome in the p21 region of its short arm; This gene can cause the partial or total loss of the protein when it presents mutations causing muscular dystrophy and other types of related diseases such as Becker Muscular Dystrophy, which is considered as a mild dystrophinopathy. These pathologies are considered as disabling because they are characterized by the muscles, which leads to cardiorespiratory complications when a progressive deterioration is in advanced stages and can be the main causes of the death of the patient. The average age of diagnosis is 4.83 years, but it is possible to make an early diagnosis, because this type of dystrophy is considered within the group of orphan diseases since they are little known and poorly diagnosed or diagnosed late. That the first and second level health care doctors downplay the symptomatology, since many of them do not know about it. Therefore, timely referral to a specialist doctor and initiation of pharmacological and non-pharmacological treatment should be initiated as quickly as possible, at an early age to avoid accelerated degeneration of the musculature of the upper and lower limbs, heart and lungs.