Doença de Machado-Joseph: um estudo de caso observacional e descritivo

Abstract

Machado-Joseph disease (DMJ), which received this nomenclature due to the names of two families of Azorean origin who were the first to be studied with similar alterations. The Machado family observed in 1972 had progressive ataxia, nystagmus, hyporeflexia, varying degrees of amyotrophy, signs of injury to the posterior cord of the spinal cord. Four years later, the study of the Joseph family was performed, which presented progressive ataxia, dysarthria, nystagmus, bradykinesia, fasciculations of the tongue and face. In 1978, the nomenclature of Machado-Joseph Disease was proposed. Its transmission is autosomal dominant genetics and affects women and men in the same proportion. The physiotherapy has been shown to be a very important alternative in the improvement of ataxic dysfunctions. The objective of this study is to contribute to the knowledge about this pathology, observing the physiotherapeutic treatment performed at the stage in which the patient with DMJ needs more care, being hospitalized, since the pathology has progressive degenerative character, being indispensable the referred one’s care. This article is a case report of a female patient with DMJ hospitalized at HULW in the city of João Pessoa-PB. The data were collected through access to the medical records of the patient with their authorization and with the collaboration of professionals and students of the physiotherapy course who performed the physiotherapeutic treatment on the patient during the hospitalization period, aiming at the elaboration of a protocol base for the treatment in the hospital setting. It is suggested that this protocol be applied in a larger group of patients, to prove its efficacy and efficiency in the treatment for DMJ in the Hospital phase.