Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients

BMC Musculoskeletal Disorders

Jürgen Forst³  Raimund Forst³  Silvia Richter³  Alexander Schuh¹  Wolfgang Raab²  Albert Fujak³ 

[1] Neumarkt Hospital, Teaching Hospital of the Friedrich-Alexander-Universität Erlangen-Nürnberg, Str. 12, D-92318 Neumarkt i.d. OPf, Erlangen, Germany;Medizinische Klinik II-4, Klinikum Nürnberg, Breslauer Str. 201, Nuremberg D-90471, Germany;Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Rathsberger Str. 57, D-91054 Erlangen, Germany

关键词: Natural course;    Pulmonary function;    Pelvic obliquity;    Scoliosis;    Spinal muscular atrophy;   

Others  :  1129537
DOI  :  10.1186/1471-2474-14-283

 received in 2013-04-09, accepted in 2013-10-02,  发布年份 2013

【 摘 要 】

Background

Progressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with SMA type II and SMA type III once they have lost the ability to walk. The aim of this study was to examine and document the development and natural course of scoliosis in patients with spinal muscular atrophy type II and IIIa.

Methods

For the purposes of a descriptive clinical study, we observed 126 patients, 99 with SMA II and 27 with SMA IIIa and the data of scoliosis, pelvic obliquity and relative age-dependent inspiratory vital capacity were evaluated.

Results

Scoliosis and pelvic obliquity were regularly observed already in children under 4 years old in the group with SMA II. The severity and progression of both conditions were much more pronounced in the SMA II group than in the IIIa group. There was already a distinct reduction in relative vital capacity in the group of 4- to 6-year-olds with SMA II.

Conclusions

The differences between the two SMA types II and IIIa described in this study should be taken into consideration when developing new treatments and in management of scoliosis in the childhood years of these patients.

【 授权许可】

   
2013 Fujak et al.; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Rudnik-Schöneborn S, De Visser M, Zerres K: Spinal Muscular Atrophies. In Myology. Edited by Engel A, Franzini-Armstrong C. New York: McGraw-Hill; 2004:1845-1864.
• [2]Forst R, Ingenhorst A, Mortier W: Neuromusculäre Systemerkrankungen. In Orthopädie und Orthopädische Chirurgie. Systemerkrankungen. Edited by Zichner L. New York: Stuttgart; 2003:243-254.
• [3]Fujak A, Kopschina C, Forst R, Mueller LA, Forst J: Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. Disabil Rehabil Assist Technol 2011, 6:305-311.
• [4]Fujak A, Ingenhorst A, Heuser K, Forst R, Forst J: Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood. Ortop Traumatol Rehabil 2005, 7:175-179.
• [5]Fujak A, Wollinsky KH, Forst R: Proximal spinal muscular atrophy (SMA). Z Orthop Unfallchir 2007, 145:1-20.
• [6]Fujak A, Forst R, Forst J: Current strategies of conservative and operative treatment of the most frequent muscular disorders. Orthopade 2010, 39:38-52.
• [7]Fujak A, Kopschina C, Gras F, Forst R, Forst J: Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. Ortop Traumatol Rehabil 2010, 12:410-419.
• [8]Fujak A, Kopschina C, Gras F, Forst R, Forst J: Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. Ortop Traumatol Rehabil 2011, 13:27-36.
• [9]Granata C, Merlini L, Magni E, Marini ML, Stagni SB: Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis. Spine 1989, 14:760-762.
• [10]Rodillo E, Marini ML, Heckmatt JZ, Dubowitz V: Scoliosis in spinal muscular atrophy: review of 63 cases. J Child Neurol 1989, 4:118-123.
• [11]Evans GA, Drennan JC, Russman BS: Functional Classification and orthopaedic management of spinal muscular atrophy. J Bone Joint Surg Br 1981, 63-B:516-522.
• [12]Riddick MF, Winter RB, Lutter LD: Spinal deformities in patients with spinal muscular atrophy. Spine 1982, 7:476-483.
• [13]Aprin H, Bowen JR, MacEwen GD, Hall JE: Spine fusion in patients with spinal muscular atrophy. J Bone Joint Surg Am 1982, 64-A:1179-1187.
• [14]Daher YH, Lonstein JE, Winter RB, Bradford DS: Spinal surgery in Spinal Muscular Atrophy. J Pedriatr Orthop 1985, 5:391-395.
• [15]Piasecki JO, Mahinpuor S, Levine DB: Long-term follow-up of spinal fusion in spinal muscular atrophy. Clin Orthop Relat Res 1986, 207:44-54.
• [16]Brown JC, Zeller JL, Swank SM, Furumasu J, Warath SL: Surgical and functional results of spine fusion in spinal muscular atrophy. Spine 1989, 14:763-770.
• [17]Merlini L, Granata C, Bonfiglioli S, Marini ML, Cervellati S, Savini R: Scoliosis in spinal muscular atrophy: Natural history and management. Dev Med Child Neurol 1989, 31:501-508.
• [18]Granata C, Cervellati S, Ballestrazzi A, Corbascio M, Merlini L: Spine surgery in spinal muscular atrophy: Long term results. Neuromuscul Disord 1993, 3:207-215.
• [19]Robinson D, Galasko CS, Delaney C, Williamson JB, Barrie JL: Scoliosis and lung function in spinal muscular atrophy. Eur Spine J 1995, 4:268-273.
• [20]Chng SY, Wong YQ, Hui JH, Wong HK, Ong HT, Goh DY: Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health 2003, 39:673-676.
• [21]Roso V, Bitu Sde O, Zanoteli E, Yetta JT, De Castro RC, Fernandes AC: Surgical treatment of scoliosis in spinal muscular atrophy. Arq Neuropsiquiatr 2003, 61:631-638.
• [22]Zebala LP, Bridwell KH, Baldus C, Richards SB, Dormans JP, Lenke LG, Auerbach JD, Lovejoy J: Minimum 5-year radiographic results of long scoliosis fusion in juvenile spinal muscular atrophy patients: major curve progression after instrumented fusion. J Pediatr Orthop 2011, 31:480-488.
• [23]Phillips DP, Roye DP, Farcy JP, Leet A, Shelton YA: Surgical treatment of Scoliosis in Spinal muscular Atrophy Population. Spine 1990, 15:942-945.
• [24]Fujak A, Raab W, Schuh A, Kreß A, Forst R, Forst J: Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients. Arch Orthop Trauma Surg 2012, 12:1697-1706.
• [25]Chandran S, McCarthy J, Noonan K, Mann D, Nemeth B, Guiliani T: Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report. J Pediatr Orthop 2011, 31:450-454.
• [26]McElroy MJ, Shaner AC, Crawford TO, Thompson GH, Kadakia RV, Akbarnia BA, Skaggs DL, Emans JB, Sponseller PD: Growing rods for scoliosis in spinal muscular atrophy: structural effects, complications, and hospital stays. Spine 2011, 36:1305-1311.