Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease

Abstract

-Context -In Machado-Joseph disease, poor posture, dystonia and peripheral neuropathy are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with muscular dystrophy. Objective -To evaluate the clinical characteristics of oropharyngeal dysphagia in Machado-Joseph disease patients. Method -Forty individuals participated in this study, including 20 with no clinical complaints and 20 dysphagic patients with Machado-Joseph disease of clinical type 1, who were all similar in terms of gender distribution, average age, and cognitive function. The medical history of each patient was reviewed and each subject underwent a clinical evaluation of deglutition. At the end, the profile of dysphagia in patients with Machado-Joseph disease was classified according to the Severity Scale of Dysphagia, as described by O'Neil and collaborators. Results -Comparison between dysphagic patients and controls did not reveal many significant differences with respect to the clinical evaluation of the oral phase of deglutition, since afflicted patients only demonstrated deficits related to the protrusion, retraction and tonus of the tongue. However, several significant differences were observed with respect to the pharyngeal phase. Dysphagic patients presented pharyngeal stasis during deglutition of liquids and solids, accompanied by coughing and/or choking as well as penetration and/or aspiration; these signs were absent in the controls. Conclusions -Oropharyngeal dysphagia is part of the Machado-Joseph disease since the first neurological manifestations. There is greater involvement of the pharyngeal phase, in relation to oral phase of the deglutition. The dysphagia of these patients is classified between mild and moderate. HEADINGS -Machado-Joseph disease. Deglutition disorders.

Pharyngeal Dystonia Mimicking Spasmodic Dysphonia

“…5,6 Furthermore, dystonia affecting primarily the pharyngeal musculature can be an early feature of more complex dystonias, which later progress to involve the larynx or oromandibular regions, such as idiopathic adultonset focal dystonia, 5,6 neuroleptic-associated tardive syndrome, 7–11 or systemic neurologic disorders such as Machado-Joseph disease. 12 For example, in a case series of patients with lower cranial dystonia, pharyngeal involvement was identified as a potential presentation. 13 As a result, it is difficult to isolate this disease process.…”

Qualidade de vida em pacientes com doença de Machado-Joseph sob acompanhamento fonoaudiológico para disfagia

“…However, as pharmacologic as no pharmacologic treatments should be used with these patients, aiming at improving QOL, minimizing the effects of the symptomatology [25][26][27] .…”

Videofluoroscopy: the gold standard exam for studying swallowing and its dysfunction

“…Nevertheless, a number of other methodologies are also used. In this current edition of ARQUIVOS de GASTROENTEROLOGIA two insightful manuscripts entitled Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease (2) and Effect of age on proximal esophageal response to swallowing (8) utilizes other methodologies. The authors of the first study classified their results based on dysphagia severity scale, which was created with videofluoroscopy and they adopted cervical auscultation for the clinical evaluation of the pharyngeal phase of deglutition.…”