Compreendendo melhor a doença de Segawa a partir dos sintomas neuropsiquiátricos e do sono

Abstract

This work addresses the non-motor manifestations of Segawas Disease (DYT5a), or classical dopa-responsive dystonia (DRD), a rare disease that in most cases manifests initially in childhood. Due to the limited number of related studies in the international literature and the variability of its results, this study aims to improve knowledge about the DYT5a symptomatology, contributing to a possible redefinition of variable expressivity and incomplete penetrance rates of this illness. Starting from a patient with symptoms of spastic diplegia since 1 year old, only diagnosed as DYT5a at age 13, a previous study identified 19 people from the proband family with IVS5 + 3insT mutation in the GCH1 gene, among 63 individuals studied. At the present comparative cross-sectional study it was proposed to evaluate the non-motor symptoms of all the family cases identified with the mutation, having as control an intrafamilial group of people without the DYT5a. The assessment of the groups by the Beck Depression Inventory - II, the Wiener Matrizen Test 2, the Epworth Sleepiness Scale and the Pittsburgh Sleep Quality Index did not bring statistically significant evidence of differences in the prevalence of the surveyed conditions between the groups, when statistical tests were applied. However, the application of the M.I.N.I/M.I.N.I. PLUS and the World Health Organization Quality of Life BREF instrument evidenced that a possible discussion about the percentages of variable expressiveness and incomplete penetrance of DYT5a is relevant due to statistically significant differences between the groups in the prevalence of some disorders or non-motor symptoms, being found in individuals with DYT5a: worse perception about how safe they feel in their daily lives, less satisfaction with themselves and their personal relationships, and higher prevalence of past major depressive episodes. Paradoxically, higher prevalence of generalized anxiety disorder (23.81%, p=0.0500) and attention deficit hyperactivity disorder in childhood (28.57%, p=0.0241) were observed in the control group, with occurrence of these conditions only in individuals without DRD, suggesting probably more resilience to these disorders in the group with DYT5a, or bias due to the greater use of psychotropic drugs and L-Dopa by this population. Finally, some findings suggest possible associations between the Segawa group and some other conditions, such as bigger prevalence of use of chronic medications (94.12%) and psychotropic medicines (52.94%, excluding L-Dopa) and high prevalence of current depressive symptoms (41.18%), excessive daytime sleepiness (47.06%) and poor sleep quality (58.82%) in this group, although for these high rates the hypothesis of an unknown intrafamilial factor cannot be ruled out. Even that these latter associations are not specific or accompanied by statistical differences between the groups, they need to be considered for the clinical management of the investigated patients.