{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T15:23:48Z","timestamp":1771946628036,"version":"3.50.1"},"reference-count":38,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T00:00:00Z","timestamp":1630281600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>The purpose of this study was to investigate the functional relationships between selected ranges of motion of the neck, upper and lower limbs, the strength of the neck and trunk muscles, postural parameters, and the motor function of children with SMA1 and SMA2\u201427 children, aged 6 months-15 years, with genetically confirmed spinal muscular atrophy type 1 (19 children) and 2 (8 children) undergoing pharmacological treatment. All children were examined, according to the methodology, including the motor function evaluation, measurement of selected ranges of motion, assessment of postural parameters, and measurement of neck and trunk muscle strength. The functional status of 15 children was assessed with the CHOP INTEND (CHOP group) scale and of 12 children with the HFMSE (HFMSE group). The results obtained showed that, in children examined with the CHOP scale, greater limitation of flexion in the shoulder joints was observed. As the deformation of the chest increased, the functional abilities of children deteriorated. In participants examined with the CHOP group, the ranges of neck rotation decreased with the increase of the chest deformity. In the HFMSE group, the ranges of head rotation showed a strong relationship with some parameters of muscle strength and the sum of the R coefficients. Participants showed many significant relationships between the range of motion in the neck and joints of the limbs, with more significant relationships in the CHOP group. The following conclusions were made: motor skills of children with SMA depend on muscle strength, range of motion, and deformities of the spine and chest; the development of scoliosis adversely affects the motor function, ranges of motion, and muscle strength; and movement ranges are related to motor skills and strength values.<\/jats:p>","DOI":"10.3390\/ijerph18179134","type":"journal-article","created":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T11:01:37Z","timestamp":1630321297000},"page":"9134","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["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"],"prefix":"10.3390","volume":"18","author":[{"given":"Agnieszka","family":"St\u0119pie\u0144","sequence":"first","affiliation":[{"name":"Department of Rehabilitation, J\u00f3zef Pi\u0142sudski University of Physical Education, Marymoncka Str., 00-968 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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, 49 Przybyszewskiego Str, 60-355 Poznan, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Witold","family":"Rekowski","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, J\u00f3zef Pi\u0142sudski University of Physical Education, Marymoncka Str., 00-968 Warszawa, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1053\/ejpn.2001.0510","article-title":"Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and III","volume":"5","author":"Kroksmark","year":"2001","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_3","first-page":"241","article-title":"Evaluation of muscle strength in patients with spinal muscular atrophy","volume":"18","author":"Wang","year":"2002","journal-title":"Kaohsiung J. Med. Sci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/mus.20018","article-title":"Motor function-muscle strength relationship in spinal muscular atrophy","volume":"29","author":"Merlini","year":"2004","journal-title":"Muscle Nerve"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"228","DOI":"10.2340\/16501977-0507","article-title":"Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy","volume":"42","author":"Febrer","year":"2010","journal-title":"J. Rehabil. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1212\/WNL.0b013e318271f7e4","article-title":"Prospective cohort study of spinal muscular atrophy types 2 and 3","volume":"79","author":"Kaufmann","year":"2012","journal-title":"Neurology"},{"key":"ref_7","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_8","doi-asserted-by":"crossref","unstructured":"St\u0119pie\u0144, A., Mazurkiewicz, \u0141., Ma\u015blanko, K., Rekowski, W., and J\u0119drzejowska, M. (2020). Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy. BMC Musculoskelet. Disord., 21.","DOI":"10.1186\/s12891-020-03710-7"},{"key":"ref_9","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_10","first-page":"50","article-title":"Hip abduction and supported standing affect the ranges of hips extension in spinal muscular atrophy patients","volume":"28","author":"Kiebzak","year":"2020","journal-title":"Pol. Ann. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1097\/00002060-199509001-00009","article-title":"Profiles of neuromuscular diseases. Spinal muscular atrophy","volume":"74","author":"Carter","year":"1995","journal-title":"Am. J. Phys. Med. Rehabil."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.nmd.2015.10.006","article-title":"Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials","volume":"26","author":"Mercuri","year":"2016","journal-title":"Neuromuscul. Disord."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/ene.13534","article-title":"Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4","volume":"25","author":"Wadman","year":"2018","journal-title":"Eur. J. Neurol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy","volume":"15","author":"Mercuri","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1177\/1060028018789956","article-title":"Nusinersen: A Treatment for Spinal Muscular Atrophy","volume":"53","author":"Claborn","year":"2019","journal-title":"Ann. Pharmacother."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e2492","DOI":"10.1212\/WNL.0000000000007527","article-title":"Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1\/2 studies","volume":"92","author":"Darras","year":"2019","journal-title":"Neurology"},{"key":"ref_17","first-page":"CD006282","article-title":"Drug treatment for spinal muscular atrophy types II and III","volume":"6","author":"Wadman","year":"2020","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"289","DOI":"10.5603\/PJNNS.a2021.0020","article-title":"Nusinersen treatment of Spinal Muscular Atrophy Type 1\u2014Results of expanded access programme in Poland","volume":"55","author":"Modrzejewska","year":"2021","journal-title":"Neurol. Neurochir. Pol."},{"key":"ref_19","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_20","doi-asserted-by":"crossref","first-page":"2633105520973985","DOI":"10.1177\/2633105520973985","article-title":"The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy","volume":"15","author":"Singh","year":"2020","journal-title":"Neurosci. Insights"},{"key":"ref_21","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_22","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1097\/PEP.0b013e3182351f04","article-title":"Validation of the Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)","volume":"23","author":"Glanzman","year":"2011","journal-title":"Pediatr. Phys. Ther."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.nmd.2006.03.015","article-title":"A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy","volume":"16","author":"Krosschell","year":"2006","journal-title":"Neuromuscul. Disord."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1177\/0883073811420294","article-title":"Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III","volume":"26","author":"Glanzman","year":"2011","journal-title":"J. Child Neurol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1002\/mus.22040","article-title":"Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy","volume":"44","author":"Krosschell","year":"2011","journal-title":"Muscle Nerve"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s13013-017-0145-8","article-title":"2016 SOSORT guidelines: Orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth","volume":"13","author":"Negrini","year":"2018","journal-title":"Scoliosis Spinal Disord."},{"key":"ref_27","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_28","first-page":"514","article-title":"Neck and trunk muscle strength in children with spinal muscular atrophy is lower than in healthy controls and depends on disease type","volume":"12","author":"Osiak","year":"2021","journal-title":"Front. Neurol."},{"key":"ref_29","first-page":"69","article-title":"Statistics corner: A guide to appropriate use of correlation coefficient in medical research","volume":"24","author":"Mukaka","year":"2012","journal-title":"Malawi Med. J."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1097\/PEP.0000000000000515","article-title":"Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function","volume":"30","author":"Salazar","year":"2018","journal-title":"Pediatr. Phys. Ther."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1177\/112070000901906s08","article-title":"Strategies of hip management in neuromuscular disorders: Duchenne Muscular Dystrophy, Spi-nal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita","volume":"19","author":"Canavese","year":"2009","journal-title":"Hip Int."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1748-7161-3-14","article-title":"A Dutch guideline for the treatment of scoliosis in neuromuscular disorders","volume":"3","author":"Mullender","year":"2008","journal-title":"Scoliosis"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"613","DOI":"10.3233\/BMR-160675","article-title":"Factors influencing the evaluation and management of neuromuscular scoliosis: A review of the literature","volume":"21","author":"Roberts","year":"2016","journal-title":"J. Back Musculoskelet. Rehabil."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S1474-4422(12)70061-3","article-title":"Childhood spinal muscular atrophy: Controversies and challenges","volume":"11","author":"Mercuri","year":"2012","journal-title":"Lancet Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.ejpn.2015.04.005","article-title":"Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy","volume":"19","author":"Lager","year":"2015","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1177\/0883073808315418","article-title":"Is head balance a major determinant for swallowing problems in patients with spinal muscular atrophy type 2?","volume":"23","author":"Erasmus","year":"2008","journal-title":"J. Child Neurol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s00586-020-06535-z","article-title":"Regional and experiential differences in surgeon preference for the treatment of cervical facet injuries: A case study survey with the AO Spine Cervical Classification Validation Group","volume":"30","author":"Canseco","year":"2021","journal-title":"Eur. Spine J."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"E8","DOI":"10.1097\/01.brs.0000148996.02279.b9","article-title":"Muscle atrophy after treatment with Halovest","volume":"1","author":"Ono","year":"2005","journal-title":"Spine (Phila Pa 1976)"}],"container-title":["International Journal of Environmental Research and Public Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1660-4601\/18\/17\/9134\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:55:25Z","timestamp":1760165725000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1660-4601\/18\/17\/9134"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,30]]},"references-count":38,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["ijerph18179134"],"URL":"https:\/\/doi.org\/10.3390\/ijerph18179134","relation":{},"ISSN":["1660-4601"],"issn-type":[{"value":"1660-4601","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,30]]}}}