FIGUEIREDO, F. P.; http://lattes.cnpq.br/0736757589930980; FIGUEIREDO, Fernanda Pedrosa de.
Resumo:
Duchenne Muscular Dystrophy (DMD) is the most common and severe neuromuscular disease of childhood, affecting 1 in every 3600 6000 live male newborns. It is a genetic disease of recessive character, linked to the X chromosome, that occurs due to mutations in the dystrophin gene. It is characterized by progressive and irreversible degeneration of skeletal, respiratory and cardiac musculature. Clinical manifestations include motor weakness, which progresses to the loss of ambulation before 13 years. In addition to motor impairment, one third of patients have cognitive dysfunctions. Since DMD has a peripheral muscular nature, the present study seeks to find the possible pathophysiological explanations for the high prevalence of cognitive dysfunctions found in patients with this disease. We chose the integrative review method, using the following descriptors: Duchenne Muscular Dystrophy and cognitive (Duchenne Muscular Dystrophy, cognitive); the databases consulted were Virtual Health Library (VHL) and Medical Published
service of the U.S. National Library of Medicine (PUBMED). After analyzing the articles, and considering the period of publication in the last ten years, 16 studies were considered and critically analyzed. The evaluation of the work allowed them to be organized into three categories according to the focus given to the cognitive aspects of DMD observed in the studies: dystrophin action in the Central Nervous System (CNS) and pathophysiology of cognitive dysfunctions in DMD; more frequent genetic mutation and the clinical prognosis of DMD in relation to cognitive aspects. The results demonstrated the importance of dystrophin brain isoforms in cognitive development and that distal mutations are related to the increased incidence of cognitive dysfunctions, which correlate with a worse clinical prognosis. Therefore, it is important that neurological and psychiatric evaluation be performed routinely in all patients, so that an early diagnosis of cognitive deficit and therapeutics interventions can be made. In view of the high incidence and severity of DMD, boys with cognitive delay have to be screened for this disease.