{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T04:33:13Z","timestamp":1751430793476},"reference-count":14,"publisher":"FapUNIFESP (SciELO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Einstein (S\u00e3o Paulo)"],"abstract":"<jats:p>ABSTRACT The X-linked spinal and bulbar muscular atrophy (Kennedy\u2019s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition in the androgen receptor gene. Patients with Kennedy\u2019s disease have more than 39 CAG repetitions. We report a case of 57-year-old man, resident of Monte Dourado (PA, Brazil) who complained of brachiocrural paresis evolving for 3 years along with fasciculations and tremors of extremities. In addition, he also developed dysarthria, dysphagia, and sexual dysfunction. The patient clinical picture included gait impairment, global hyporeflexia, proximal muscle atrophy of upper limbs, deviation of the uvula to right during phonation and tongue atrophy with fasciculations. The patient reported that about 30 years ago he had undergone gynecomastia surgery. His electroneuromyography suggested spinal muscular atrophy, and nuclear magnetic resonance imaging showed tapering of the cervical and thoracic spinal cord. Patient\u2019s creatine kinase level was elevated. In view of the findings, an exam was requested to investigate Kennedy\u2019s disease. The exam identified 46 CAG repetitions in the androgen receptor gene, which confirmed the diagnostic suspicion. This was the first case of Kennedy\u2019s disease diagnosed and described in the Brazilian Amazon. To our knowledge only other four papers were published on this disease in Brazilian patients. A brief review is also provided on etiopathogenic, clinical and diagnostic aspects.<\/jats:p>","DOI":"10.1590\/s1679-45082018rc4011","type":"journal-article","created":{"date-parts":[[2018,6,8]],"date-time":"2018-06-08T14:39:56Z","timestamp":1528468796000},"source":"Crossref","is-referenced-by-count":6,"title":["X-linked spinal and bulbar muscular atrophy (Kennedy\u2019s disease): the first case described in the Brazilian Amazon"],"prefix":"10.1590","volume":"16","author":[{"given":"Camila Nascimento","family":"Alves","sequence":"first","affiliation":[{"name":"Hospital Ophir Loyola,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiago Kiyoshi Kitabayashi","family":"Braga","sequence":"additional","affiliation":[{"name":"Universidade do Estado do Par\u00e1,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danusa Neves","family":"Somensi","sequence":"additional","affiliation":[{"name":"Universidade do Estado do Par\u00e1,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno S\u00e9rgio Vilhena do","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Hospital Ophir Loyola,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Ant\u00f4nio Santos de","family":"Lima","sequence":"additional","affiliation":[{"name":"Hospital Ophir Loyola,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satomi","family":"Fujihara","sequence":"additional","affiliation":[{"name":"Hospital Ophir Loyola,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2018,6,7]]},"reference":[{"issue":"3","key":"ref1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s12031-015-0674-7","article-title":"Spinal and Bulbar Muscular Atrophy Overview","volume":"58","author":"Fischbeck KH","year":"2016","journal-title":"J Mol Neurosci."},{"issue":"6","key":"ref2","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1590\/S1807-59322011000600006","article-title":"Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy\u2019s disease)","volume":"66","author":"Dias FA","year":"2011","journal-title":"Clinics (Sao Paulo)"},{"issue":"3","key":"ref3","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1007\/s12031-015-0684-5","article-title":"Diagnostic Clinical, electrodiagnostic and muscle pathology features of spinal and bulbar muscular atrophy","volume":"58","author":"Jokela ME","year":"2016","journal-title":"J Mol Neurosci."},{"issue":"3B","key":"ref4","first-page":"639","article-title":"[X-linked recessive bulbospinal muscular atrophy (Kennedy\u2019s disease). 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