Avaliação clínico e laboratorial das mães dos meninos com distrofia muscular de Duchenne

Abstract

Introduction: Duchenne Muscular Dystrophy is a progressive neuromuscular disease, with recessive genetic inheritance pattern linked to the X chromosome, and since 1957 carrier status was observed by elevated creatine phosphokinase (CK), and around 2.5-10% of the carriers may be symptomatic. Observing the few studies focusing on the clinical profile of these mothers, and the fact that they are almost frequent presence in the consultations and care of their children with DMD, it became essential to study their symptoms and signs that could be implicated to morbidity. Methodology: Observational, descriptive and cross-sectional study carried out at the Neuropediatrics service of the Instituto de Puericultura e Pediatria Martagão Gesteira - UFRJ, 39 mothers were evaluated on the same day of the consultation of their children, and the Mini Mental State Examination (MMSE) was carried out, muscle strength was evaluated, CK level and Electrocardiogram (ECG) were requested, in addition to evaluation of sociodemographic data. Non-biological mothers were excluded. Results: In seven subjects (18%), the CK levels were above normal range, in addition to demonstrating that younger women had higher CK values. In the evaluation of muscle strength, a deficit of strength was found in 12 mothers (30,8%) in the iliopsoas. Eight mothers (20,5%) did not finish elementary schooling. In the ECG assessment, five mothers (20.4%) presented some type of abnormality. As for the MMSE, it was necessary to consider the particularities in terms of schooling and the value found in the MMSE, however, 17 (43.6%) of the mothers had a lower-than- expected score. (BRUCKI et al, 2003) As for elementary school, two (50%) mothers did not complete this period within the expected nine years. Conclusion: The clinical evaluation of these mothers proved to be extremely relevant, and mainly points to cognitive complaints, which is not so widely discussed in literature. Without any previous complaint, a deficit of proximal strength was found in approximately one third of these mothers and some had abnormal ECG. These mothers tend to be the main caregivers for their children, and the clinical impairment, despite not being systematically perceptible, can limit themselves or the care to their sons. Particularly cognitive impairment can have a direct impact on care and adherence to therapy. Considering complete or incomplete elementary school, those mothers differ from normal period defined for this important phase.