{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:43:57Z","timestamp":1753883037403,"version":"3.41.2"},"reference-count":35,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T00:00:00Z","timestamp":1746403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Kennedy's disease (KD) is a rare, insidiously progressive lower motor neuron syndrome characterised by amyotrophy involving the appendicular or bulbar musculature of adult males in their fourth to fifth decade. There are no large series from the Indian subcontinent describing the clinical-genetic and laboratory spectrum of KD.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Aim<\/jats:title>\n            <jats:p>To describe the clinical, electrophysiologic, metabolic and genetic profile of patients with KD.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We conducted a retrospective review of ten genetically confirmed KD patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The mean age of the cohort was 47 years, with a mean age of onset of illness at 41.3\u2009\u00b1\u20099.9 years. The median duration of symptoms before presentation was 5 (3\u201312) years. The most common referral diagnosis was ALS. The majority presented with symmetric proximal limb weakness with bulbar symptoms and were found to have gynecomastia, lower motor neuron (LMN) facial weakness, and facial and lingual fasciculations. Electrophysiology revealed sensory neuropathy in five patients and chronic neurogenic changes consistent with anterior horn cell disease in all. Metabolic profile showed impaired glycemia, hyperlipidemia and evidence of non-alcoholic fatty liver disease in the majority. All had elevated serum creatine kinase. Genetic testing revealed a median of 46 CAG repeats. The phenotypes of our patients aligned with global data that is predominantly derived from participants of European ancestry.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>We describe a series of patients with KD from India with significant multisystemic involvement.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1177\/22143602251325795","type":"journal-article","created":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T02:56:17Z","timestamp":1746500177000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Kennedy's disease from India: An Indian Cohort with multisystemic manifestations"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-8862-0505","authenticated-orcid":false,"given":"Saranya B","family":"Gomathy","sequence":"first","affiliation":[{"name":"Department of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William L","family":"Macken","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3214-2348","authenticated-orcid":false,"given":"Nimita","family":"Rani","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2303-1961","authenticated-orcid":false,"given":"Ayush","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rakesh","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Grant Govt. 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