{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T06:24:49Z","timestamp":1783059889611,"version":"3.54.6"},"reference-count":29,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T00:00:00Z","timestamp":1721347200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: In recent years, rapid advances in diagnosis and treatment have been observed in spinal muscular atrophy (SMA) patients. The introduction of modern therapies and screening tests has significantly changed the clinical picture of the disease. The previous classification has, therefore, been replaced by new phenotypes: non-sitters, sitters, and walkers, defined by the patient\u2019s functional level. However, despite the change in the clinical picture of the disease, patients still suffer from accompanying structural disorders such as scoliosis or joint contractures. Their presence also significantly affects the acquisition of subsequent motor skills. Due to this, monitoring structural changes and ensuring therapists are aware of improvements or declines in patient functionality are essential components of clinical practice. This study aims to compare the assessment of structural and functional changes after a 12-month follow-up in SMA patients who have already experienced the effects of the disease and are now receiving modern therapy. Methods: We present a study of 34 SMA patients being treated with modern therapies and tested twice 12 months apart. The participants were tested using structural measurements and validated scales such as The Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and Hammersmith Functional Motor Scale\u2013Expanded (HFMSE). Results: During the 12-month follow-up, patients showed deteriorating, non-statistically significant structural changes. We also proved that patients showed a trend toward functional improvement. Analyzing the individual scale items, we distinguished which participants obtained the maximum score for a given parameter and no longer had an opportunity to improve during the second examination. Conclusions: Our study proved that most patients improved overall motor function. The examination of structural measurements should become a standard in the evaluation of SMA patients.<\/jats:p>","DOI":"10.3390\/jcm13144232","type":"journal-article","created":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T15:15:19Z","timestamp":1721402119000},"page":"4232","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Functional and Structural Changes in Patients with Spinal Muscular Atrophy Treated in Poland during 12-Month Follow-Up: A Prospective Cohort Study"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8298-6920","authenticated-orcid":false,"given":"Aleksandra","family":"Bieniaszewska","sequence":"first","affiliation":[{"name":"Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland"},{"name":"Doctoral School, Poznan University of Medical Sciences, 60-812 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5341-8708","authenticated-orcid":false,"given":"Magdalena","family":"Sobieska","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation and Physiotherapy, Poznan University of Medical Sciences, 61-545 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9317-391X","authenticated-orcid":false,"given":"Ewa","family":"Gajewska","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1007\/s12035-017-0831-9","article-title":"Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy","volume":"55","author":"Govoni","year":"2018","journal-title":"Mol. Neurobiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1007\/s40265-020-01410-z","article-title":"Risdiplam: First Approval","volume":"80","author":"Dhillon","year":"2020","journal-title":"Drugs"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Chen, T.-H. (2020). New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21093297"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3233\/JND-190424","article-title":"Advances in Treatment of Spinal Muscular Atrophy\u2014New Phenotypes, New Challenges, New Implications for Care","volume":"7","author":"Schorling","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.nmd.2016.10.002","article-title":"Developmental Milestones in Type I Spinal Muscular Atrophy","volume":"26","author":"Coratti","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejpn.2022.04.006","article-title":"Mid- and Long-Term (at Least 12 Months) Follow-up of Patients with Spinal Muscular Atrophy (SMA) Treated with Nusinersen, Onasemnogene Abeparvovec, Risdiplam or Combination Therapies: A Systematic Review of Real-World Study Data","volume":"39","author":"Erdos","year":"2022","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_9","unstructured":"(2023, October 28). SMA Foundation in Poland. Available online: https:\/\/www.fsma.pl\/rdzeniowy-zanik-miesni\/jak-czeste-jest-sma\/."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Bieniaszewska, A., Sobieska, M., and Gajewska, E. (2022). Prospective Analysis of Functional and Structural Changes in Patients with Spinal Muscular Atrophy\u2014A Pilot Study. Biomedicines, 10.","DOI":"10.3390\/biomedicines10123187"},{"key":"ref_11","unstructured":"Kotulska-J\u00f3\u017awiak, K., Kostera-Pruszczyk, A., Mazurkiewicz-Be\u0142dzi\u0144ska, M., Gos, M., and J\u0119drzejowska, M. (2022). Rdzeniowy Zanik Mi\u0119\u015bni (SMA). Efekty Leczenia SMA w Polsce. Nowa Jako\u015b\u0107 \u017bycia Pacjent\u00f3w i Opiekun\u00f3w\u2014Raport, Modern Healthcare Institute."},{"key":"ref_12","first-page":"1027","article-title":"Consensus Statement for Standard of Care in Spinal Muscular Atrophy","volume":"22","author":"Wang","year":"2007","journal-title":"Pract. Guidel."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and Management of Spinal Muscular Atrophy: Part 2: Pulmonary and Acute Care; Medications, Supplements and Immunizations; Other Organ Systems; and Ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.nmd.2021.02.011","article-title":"Filling the Gaps in Knowledge Translation: Physical Therapy Recommendations for Individuals with Spinal Muscular Atrophy Compared to Standard of Care Guidelines","volume":"31","author":"Trenkle","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"27","DOI":"10.5604\/15093492.933792","article-title":"Contractures of the Lower Extremities in Spinal Muscular Atrophy Type II. Descriptive Clinical Study with Retrospective Data Collection","volume":"13","author":"Fujak","year":"2011","journal-title":"Ortop. Traumatol. Rehabil."},{"key":"ref_17","first-page":"410","article-title":"Contractures of the Upper Extremities in Spinal Muscular Atrophy Type II. Descriptive Clinical Study with Retrospective Data Collection","volume":"12","author":"Fujak","year":"2010","journal-title":"Ortop. Traumatol. Rehabil."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Fujak, A., Raab, W., Schuh, A., Richter, S., Forst, R., and Forst, J. (2013). Natural Course of Scoliosis in Proximal Spinal Muscular Atrophy Type II and IIIa: Descriptive Clinical Study with Retrospective Data Collection of 126 Patients. BMC Musculoskelet. Disord., 14.","DOI":"10.1186\/1471-2474-14-283"},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"St\u0119pie\u0144, A., Gajewska, E., and Rekowski, W. (2021). Motor Function of Children with SMA1 and SMA2 Depends on the Neck and Trunk Muscle Strength, Deformation of the Spine, and the Range of Motion in the Limb Joints. Int. J. Environ. Res. Public Health, 18.","DOI":"10.3390\/ijerph18179134"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"St\u0119pie\u0144, A., J\u0119drzejowska, M., Guzek, K., Rekowski, W., and St\u0119powska, J. (2019). Reliability of Four Tests to Assess Body Posture and the Range of Selected Movements in Individuals with Spinal Muscular Atrophy. BMC Musculoskelet. Disord., 20.","DOI":"10.1186\/s12891-018-2389-8"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Bieniaszewska, A., Sobieska, M., Steinborn, B., and Gajewska, E. (2023). Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy. Biomedicines, 11.","DOI":"10.3390\/biomedicines11041005"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.nmd.2009.11.014","article-title":"The Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test Development and Reliability","volume":"20","author":"Glanzman","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/S1090-3798(03)00060-6","article-title":"The Hammersmith Functional Motor Scale for Children with Spinal Muscular Atrophy: A Scale to Test Ability and Monitor Progress in Children with Limited Ambulation","volume":"7","author":"Main","year":"2003","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.nmd.2007.05.009","article-title":"An Expanded Version of the Hammersmith Functional Motor Scale for SMA II and III Patients","volume":"17","author":"Glanzman","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"100878","DOI":"10.1016\/j.spen.2021.100878","article-title":"Spinal Muscular Atrophy","volume":"37","author":"Nicolau","year":"2021","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Mirea, A., Leanca, M.C., Onose, G., Sporea, C., Padure, L., Shelby, E.-S., Dima, V., and Daia, C. (2022). Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome. Front. Biosci.-Landmark, 27.","DOI":"10.31083\/j.fbl2706179"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1002\/cpt.2247","article-title":"Prognostic Factors and Treatment-Effect Modifiers in Spinal Muscular Atrophy","volume":"110","author":"Baranello","year":"2021","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Day, J.W., Howell, K., Place, A., Long, K., Rossello, J., Kertesz, N., and Nomikos, G. (2022). Advances and Limitations for the Treatment of Spinal Muscular Atrophy. BMC Pediatr., 22.","DOI":"10.1186\/s12887-022-03671-x"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1002\/mus.27384","article-title":"Different Trajectories in Upper Limb and Gross Motor Function in Spinal Muscular Atrophy","volume":"64","author":"Coratti","year":"2021","journal-title":"Muscle Nerve"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/14\/4232\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:20:00Z","timestamp":1760109600000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/14\/4232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,19]]},"references-count":29,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2024,7]]}},"alternative-id":["jcm13144232"],"URL":"https:\/\/doi.org\/10.3390\/jcm13144232","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,19]]}}}