Reporte de caso: Distrofia Muscular de Duchenne con variante hemicigota en el exón 45

Abstract

Background: Duchenne muscular dystrophy is a serious, rare condition that affects 1 in every 3,600-6,000 male births worldwide. It has a high mutation rate, with 1 in 3 cases presenting a de novo mutation. The phenotype is related to the location of the genetic variant; however, there is no clear relationship between deletions and phenotype severity. This disease is associated with neurodevelopmental disorders and severe orthopedic complications. Treatment with a monoclonal antibody (Translarna) has proven useful, showing good results in slowing the progression of the disease. Case Presentation: A 24-year-old male patient with an unclear diagnosis of plantar pathology who used devices such as insoles without improvement in his condition. After collecting signs, symptoms, complementary tests, and molecular studies, a diagnosis of Duchenne muscular dystrophy was reached. Once the disease was confirmed, the patient was treated with corticosteroids and supplemented with creatine daily for four years without showing improvement in his clinical condition. From the age of 18 to the present, he has been treated with a monoclonal antibody (Translarna), which has kept the patient in a stable clinical condition and slowed the progression of the disease. Expected Conclusions: It is expected to raise awareness about the rarity of Duchenne muscular dystrophy, especially its genetic mutations such as the hemizygous exon 45 variant, and the effectiveness of the monoclonal antibody (Translarna) as an available treatment for this disease.