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Examination revealed muscle weakness and atrophy in upper and lower limbs, decreased deep tendon reflexes, involuntary facial movements, bilateral finger tremors, tongue atrophy, fasciculations and bilateral gynaecomastia. Blood tests indicated elevated creatine kinase and mild hepatic dysfunction. Nerve conduction studies showed decreased sensory nerve action potentials, and electromyography demonstrated neurogenic changes. Genetic testing confirmed SBMA with 47 CAG repeats despite no family history. Treatment included leuprorelin acetate and rehabilitation using a wearable cyborg hybrid-assistive limb. As SBMA progresses slowly and symptoms like hand tremors and decreased serum creatinine precede significant weakness, early recognition is critical for diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2025-266405","type":"journal-article","created":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T18:05:22Z","timestamp":1754330722000},"page":"e266405","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Spinal and bulbar muscular atrophy with hand tremors and chronic limb weakness, Kennedy disease"],"prefix":"10.1136","volume":"18","author":[{"given":"Morika","family":"Suzuki","sequence":"first","affiliation":[{"name":"Department of General Internal Medicine, National Hospital Organisation Sendai Medical Center, Sendai, Miyagi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Watari","sequence":"additional","affiliation":[{"name":"Integrated Clinical Education Center, Kyoto University Hospital, Kyoto, Kyoto, Japan"},{"name":"General Medicine Center, Shimane University Faculty of Medicine Graduate School of Medicine, Izumo, Shimane, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genya","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of General Neurology, National Hospital Organisation Sendai Medical Center, Sendai, Miyagi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,8,4]]},"reference":[{"key":"2025082723585608000_18.8.e266405.1","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1007\/s13311-019-00790-9","article-title":"Molecular Mechanisms and Therapeutics for SBMA\/Kennedy\u2019s Disease","volume":"16","author":"Arnold","year":"2019","journal-title":"Neurotherapeutics"},{"key":"2025082723585608000_18.8.e266405.2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70321-5"},{"key":"2025082723585608000_18.8.e266405.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.08.012"},{"key":"2025082723585608000_18.8.e266405.4","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8405-3"},{"key":"2025082723585608000_18.8.e266405.5","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1212\/WNL.0000000000004748","article-title":"Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy","volume":"89","author":"Guber","year":"2017","journal-title":"Neurology (ECronicon)"},{"key":"2025082723585608000_18.8.e266405.6","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-8968-7"},{"key":"2025082723585608000_18.8.e266405.7","doi-asserted-by":"crossref","first-page":"3242","DOI":"10.1093\/brain\/awp258","article-title":"Clinical features of spinal and bulbar muscular atrophy","volume":"132","author":"Rhodes","year":"2009","journal-title":"Brain (Bacau)"},{"key":"2025082723585608000_18.8.e266405.8","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1093\/brain\/awl096","article-title":"Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients","volume":"129","author":"Atsuta","year":"2006","journal-title":"Brain (Bacau)"},{"key":"2025082723585608000_18.8.e266405.9","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1007\/s10072-024-07820-1","article-title":"Computed tomography-based radiological gynecomastia in SBMA as an independent differential diagnostic biomarker: a retrospective study","volume":"46","author":"Kang","year":"2025","journal-title":"Neurol Sci"},{"key":"2025082723585608000_18.8.e266405.10","doi-asserted-by":"crossref","first-page":"e1501","DOI":"10.1212\/WNL.0000000000005360","article-title":"Biomarker-based analysis of preclinical progression in spinal and bulbar muscular atrophy","volume":"90","author":"Hijikata","year":"2018","journal-title":"Neurology (ECronicon)"},{"key":"2025082723585608000_18.8.e266405.11","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316015"},{"key":"2025082723585608000_18.8.e266405.12","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70182-4"},{"key":"2025082723585608000_18.8.e266405.13","unstructured":"A study to evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics of aj201 in patients. 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