{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T03:54:36Z","timestamp":1790913276381,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T00:00:00Z","timestamp":1785456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T00:00:00Z","timestamp":1785456000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","award":["ref 23SI\u2010PRG60\u20100013"],"award-info":[{"award-number":["ref 23SI\u2010PRG60\u20100013"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Spinal muscular atrophy (SMA) research has focused predominantly on paediatric populations, with limited adult data from low\u2010 and middle\u2010income countries (LMICs). We prospectively recruited suspected SMA patients (age\u2009\u2265\u200912\u2009years) into a neuromuscular disease cohort at a tertiary centre in northern India, using phenotyping, creatine kinase, electrophysiology and genetic testing. Forty genetically confirmed patients were included (median age 20.5\u2009years; mean symptom duration 14.7\u2009\u00b1\u200910.9\u2009years). Proximal lower\u2010limb weakness was the commonest presentation (82.5%). Forty\u2010five percent were misdiagnosed as muscular dystrophy or congenital myopathy. Three SMA patients received risdiplam. Our cohort highlights the diagnostic challenges of adult SMA and supports a genetics\u2010first approach. Early genetic confirmation shortens diagnostic delay, reduces misclassification and helps eligible patients benefit as disease\u2010modifying therapies become more affordable in resource\u2010limited settings.<\/jats:p>","DOI":"10.1111\/cge.70221","type":"journal-article","created":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T15:02:32Z","timestamp":1785510152000},"page":"590-597","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Spinal Muscular Atrophy in Adult Neurology Services in India"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9499-658X","authenticated-orcid":false,"given":"Farsana","family":"Mustafa","sequence":"first","affiliation":[{"name":"Department of Neurology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0612-5819","authenticated-orcid":false,"given":"William L.","family":"Macken","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases University College London Queen Square Institute of Neurology  London UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders The National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-9396-5893","authenticated-orcid":false,"given":"Lindsay A.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases University College London Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nimita","family":"Rani","sequence":"additional","affiliation":[{"name":"Department of Neurology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2303-1961","authenticated-orcid":false,"given":"Ayush","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Department of Neurology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9385-291X","authenticated-orcid":false,"given":"Ajay","family":"Garg","sequence":"additional","affiliation":[{"name":"Department of Neuroimaging and Interventional Neuroradiology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7108-1974","authenticated-orcid":false,"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7662-3202","authenticated-orcid":false,"given":"Rohit","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Neurology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4987-7252","authenticated-orcid":false,"given":"Roopa","family":"Rajan","sequence":"additional","affiliation":[{"name":"Department of Neurology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0095-6569","authenticated-orcid":false,"given":"Anu","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Neurology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7217-8882","authenticated-orcid":false,"given":"Mamta Bhushan","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Neurology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasantha","family":"Sarvade","sequence":"additional","affiliation":[{"name":"Bric\u2010CDFD  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6123-4551","authenticated-orcid":false,"given":"Robert D. S.","family":"Pitceathly","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases University College London Queen Square Institute of Neurology  London UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders The National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0686-905X","authenticated-orcid":false,"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases University College London Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G.","family":"Hanna","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases University College London Queen Square Institute of Neurology  London UK"},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders The National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5929-745X","authenticated-orcid":false,"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Bric\u2010CDFD  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0075-0106","authenticated-orcid":false,"given":"Kumarasamy","family":"Thangaraj","sequence":"additional","affiliation":[{"name":"CSIR\u2010CCMB  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3654-8137","authenticated-orcid":false,"given":"Venugopalan Y.","family":"Vishnu","sequence":"additional","affiliation":[{"name":"Department of Neurology AIIMS  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,31]]},"reference":[{"key":"e_1_2_16_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15101294"},{"key":"e_1_2_16_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<420::AID-AJMG5>3.0.CO;2-S"},{"key":"e_1_2_16_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/CON.0000000000001338"},{"key":"e_1_2_16_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13796"},{"key":"e_1_2_16_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61918"},{"key":"e_1_2_16_7_1","unstructured":"L. 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