{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:26:29Z","timestamp":1789424789245,"version":"build-2803163510"},"reference-count":155,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82302108"],"award-info":[{"award-number":["82302108"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a fatal motor neuron disease characterized by five clinical subtypes, each presenting with different rates of disease progression and varying responses to recently approved therapies. The identification of reliable biomarkers is essential for improving diagnosis and prognosis, monitoring disease progression, enabling personalized treatment strategies, and evaluating therapeutic responses. In this review, we conducted a comprehensive literature search using PubMed and Web of Science with the keywords \u201cspinal muscular atrophy\u201d, \u201cbiomarker\u201d and advanced technologies such as \u201csingle-cell omics\u201d, \u201cnanopore and long-read sequencing\u201d and \u201cepigenetics\u201d to identify and summarize current advances in SMA biomarker discovery and application. We begin with a brief overview of SMA and its current treatment barriers. We then conclude with well-established and emerging molecular and non-molecular biomarkers, followed by a conclusion of emerging technologies in biomarker discovery. In the meantime, we highlight the application of biomarkers in key areas, including early diagnosis and disease stratification, monitoring of disease progression, and prediction of treatment response. Finally, we summarize biomarker-targeted therapies, addressing current challenges in biomarker research, with the goal of improving clinical outcomes for patients with SMA.<\/jats:p>","DOI":"10.3390\/ijms26146887","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T14:13:43Z","timestamp":1752761623000},"page":"6887","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Application of Biomarkers in Spinal Muscular Atrophy"],"prefix":"10.3390","volume":"26","author":[{"given":"Changyi","family":"Gao","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanqiang","family":"Zhan","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5533-6009","authenticated-orcid":false,"given":"Chunchu","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/j.neuron.2005.12.001","article-title":"Spinal muscular atrophy: A deficiency in a ubiquitous protein; a motor neuron-specific disease","volume":"48","author":"Monani","year":"2005","journal-title":"Neuron"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1053\/j.semperi.2015.03.006","article-title":"Newborn screening for spinal muscular atrophy: Anticipating an imminent need","volume":"39","author":"Phan","year":"2015","journal-title":"Semin. 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