Genealogy as Family Medicine Tool for Steinert’s Disease
Keywords:
genealogy, family tress, Steinert’s disease, biological phenomenons.Abstract
Introduction: Genealogy or family tree is a fundamental tool for clinical evaluation, as well as for research about the behavior and segregation of a disease within the family. Steinert's disease is a neurogenetic condition with multisystem manifestations, which occur in each family with variable clinical expressions.
Objective: To describe the use of genealogies as a family medicine tool for the screening of Steinert's disease.
Methods: An observational, descriptive and cross-sectional study was carried out in the province of Pinar del Río, between 2019 and 2022, based on active clinical research for all consanguineous relations of individuals with Steinert's disease. The genealogies of each family were constructed. The system of symbols included in the standardized rules on nomenclatures for pedigree in humans was used.
Results: The genealogies of each family were elaborated. The various phenotypic manifestations revealed by the pleiotropic effect and variable expressivity were represented. Lethality given by miscarriages, neonatal deaths and decreased reproduction was symbolized. A possible reduced penetrance is revealed in one of the family trees.
Conclusions: The construction of genealogies facilitated the representation of each individual with the disease by each family, as well as how the intra- and intergenerational biological phenomenons contributed to the knowledge about the behavior of the disorder, which allows the care and management of the disease.
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