Polymyositis: clinical investigation in two sisters

Abstract

-We present an investigation of a case of polymyositis affecting two sisters of one same parenthood. Their cases have been documented for almost two decades, being investigated by means of a diagnostic protocol which combined clinical findings as well as laboratorial, histopathological and image tests. In both cases, clinical manifestations started in childhood, without signs of involvement of the central and peripheral nervous system. Both patients proved to respond to a therapeutics based on corticosteroids. The degree of relatedness between their parents corroborate the notion that genetic factors may contribute to the development of the disease.KEY WORDS: polymyositis, inflammatory myopathy.

Achados otoneurológicos em um caso de miopatia inflamatória

“…Diversos estudos 1-4 referem que ocorre uma resposta anormal imune ao músculo esquelético. Sua fisiopatologia é desconhecida, e, dentre os mecanismos mais prováveis, sugere-se injúria muscular mediada por vírus ou insulto microvascular por auto-antígenos [1][2][3][4] . …”

“…, Karlin Fabianne Klagenberg (2) , Diego Augusto de Brito Malucelli (3) , Paulo Breno Noronha Liberalesso (4) , Fabiane Paulin (5) RESUMO Tema: a polimiosite é uma enfermidade sistêmica idiopática caracterizada por um processo inflamatório não supurativo que acomete a musculatura esquelética e manifesta-se clinicamente por fraqueza muscular proximal e simétrica. Possui incidência variável, cerca de um caso para cada 100 mil habitantes, havendo predominância no sexo feminino.…”

The Clinical and Pathological Spectrum of Idiopathic Inflammatory Myopathies : Implications for pathogenesis, classification and diagnosis

“…The etiopathogenesis is likely a result from an interaction of genetic and environmental factors working together [147,148]. Familial cases are scarce, but have been reported for the major subgroups [149][150][151]. Most evidence of immunogenetic associations is found for the MHC-region [152].…”