Kennedy's Disease: Diagnostics of Neurology and Comorbidity Manifestations. Case Report.

ABSTRACT INTRODUCTION. Orphan diseases are of particular interest in clinical neurology. At the present stage, the available genetic diagnostic methods make it possible to reasonably verify the hereditary diagnosis. This is especially relevant in the presence of comorbid pathology, which complicates the diagnostic search. Spinobulbar muscular atrophy, also known as Kennedy's disease, is one of the types of rare nosologies manifested by a complex of neurological and comorbid manifestations. AIM. To analyze the clinical manifestations of endocrine pathology, bulbar syndrome and peripheral paresis of the proximal muscles of the extremities in a patient with Kennedy's disease. Identify typical clinical symptoms and present the importance of accurate genetic diagnosis of the disease based on the presented clinical case. MATERIALS AND METHODS. The article presents a clinical case of a 43-year-old patient with a typical CAG mutation. RESULTS AND DISCUSSION. The description of this clinical history will allow specialists to include Kennedy's disease in the differential diagnostic series when examining a patient with suspected neuromuscular pathology with extraneural disorders. CASE PRESENTATION. Our own observation of spinobulbar muscular amyotrophy (Kennedy's disease) with the detection of a CAG mutation in the androgen receptor gene is presented. The article examines a clinical case demonstrating the manifestations of this disease. A special feature of the clinical case is the beginning of a diagnostic search with urological pathology for problems in the reproductive sphere. CONCLUSION. A detailed medical history combined with neurological status data, electromyography, and hormonal profile studies (decreased testosterone levels) make it possible to suspect Kennedy's disease. The diagnosis is verified by molecular genetic analysis of the androgen receptor gene. The description of the given clinical case will allow specialists of different specialities to obtain uptodate information about this pathology and to choose the correct diagnostic and therapeutic algorithm in the management of such patients. KEYWORDS: Kennedy's disease, spinobulbar muscular atrophy, molecular genetic analysis, CAG