Dados do Trabalho

Título

Genetic panel testing's diagnostic accuracy for hereditary neuromuscular diseases in Hospital Universitário Antônio Pedro

Resumo

Neuromuscular disorders (ND) represent an important fraction of neurological diseases. They affect the peripheral nervous system, which comprehends a vast spectrum of syndromes and etiologies. In this regard, hereditary NDs are characterized by an early age manifestation, family history and progressive loss. Furthermore, the diagnosis is challenging and of exclusion, naturally requiring a detailed investigation and complementary exams, such as and beyond genetic sequencing and electromyography. Owing to the diagnostic's difficulty, the genetics tests are value resources when it comes to identifying the disease, allowing a better understanding and orientation of the patient's symptoms and outcomes. This ongoing study aims to specify the most correlated factors with the test's positivity. In addition, a decisive algorithm for the genetic approach will be established, along with the patient's sample characterization. To that end, this is an observational retrospective and descriptive current study related to genetic test's accuracy. Patients included will have hereditary ND's suspicion, age over 18 years and other etiologie excluded. In total, 54 patients matched the previous criteria and preliminary results show that 51% are women and 29,6% are between 53-62 years. The hereditary ND was identified in 33% of the patients, yet a Charcot-Marie-Tooth phenotype was most prevalent with mutation of the PMP22, DNM2 and SH3TC2 genes. Conclusion: Therefore, genetic testing is an important instrument for hereditary ND's diagnosis and disease specification. In consequence, the patient experiences an improvement in the orientation and outcome's anticipation, besides an elementary comfort in knowing one's disorder. However, genetic panel testing doesn't ensure precise diagnosis and, as a result, a wide range of patients continues without an answer. For this reason, studying those tests accuracy is mandatory, highlighting hotspots in need of improvement.