Spinal muscular atrophy: Manifestations and management

Journal of the American Academy of Orthopaedic Surgeons

Volumn 20, Issue 6, 2012, Pages 393-401

  Mesfin, Addisu ^a   Sponseller, Paul D ^b   Leet, Arabella I ^c  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c SHRINERS HOSPITALS FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SMN1 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 1;

BONE SCREW; CLASSIFICATION; GASTROINTESTINAL DISEASE; GENETICS; HIP DISLOCATION; HUMAN; LUNG DISEASE; REVIEW; SCOLIOSIS; SPINAL MUSCULAR ATROPHY; SPINE FUSION;

BONE SCREWS; GASTROINTESTINAL DISEASES; HIP DISLOCATION; HUMANS; LUNG DISEASES; MUSCULAR ATROPHY, SPINAL; SCOLIOSIS; SPINAL FUSION; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84861997792     PISSN: 1067151X     EISSN: None     Source Type: Journal    
DOI: 10.5435/JAAOS-20-06-393     Document Type: Review

References (46)

1. Wang CH, Finkel RS, Bertini ES, et al: Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22(8):1027-1049. (Pubitemid 47308318)
2. Sucato DJ: Spine deformity in spinal muscular atrophy. J Bone Joint Surg Am 2007;89(suppl 1):148-154. (Pubitemid 46214335)
3. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B: Quantitative analyses of SMN1 and SMN2 based on real-time light Cycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70(2):358-368. (Pubitemid 34112291)
4. Lorson CL, Rindt H, Shababi M: Spinal muscular atrophy: Mechanisms and therapeutic strategies. Hum Mol Genet 2010;19(R1):R111-R118.
5. Munsat TL, Davies KE: International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992;2(5-6):423-428. (Pubitemid 23104723)
6. Evans GA, Drennan JC, Russman BS: Functional classification and orthopaedic management of spinal muscular atrophy. J Bone Joint Surg Br 1981;63(4):516-522. (Pubitemid 11029163)
7. Zerres K, Rudnik-Schöneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I: A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 1997;146(1):67-72.
8. Lefebvre S, Bürglen L, Reboullet S, et al: Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80(1):155-165.
9. Roy N, Mahadevan MS, McLean M, et al: The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80(1):167-178.
10. Burghes AH, Beattie CE: Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci 2009;10(8):597-609.
11. Eggert C, Chari A, Laggerbauer B, Fischer U: Spinal muscular atrophy: The RNP connection. Trends Mol Med 2006;12(3):113-121.
12. Chen TH, Chang JG, Yang YH, et al: Randomized, double-blind, placebocontrolled trial of hydroxyurea in spinal muscular atrophy. Neurology 2010;75(24):2190-2197.
13. Shapiro F, Specht L: The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis. J Bone Joint Surg Am 1993;75(11):1699-1714. (Pubitemid 24036449)
14. Prior TW: Spinal muscular atrophy: A time for screening. Curr Opin Pediatr 2010;22(6):696-702.
15. Schroth MK: Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics 2009;123(suppl 4):S245-S249.
16. Phillips DP, Roye DP Jr, Farcy JP, Leet A, Shelton YA: Surgical treatment of scoliosis in a spinal muscular atrophy population. Spine (Phila Pa 1976) 1990;15(9):942-945. (Pubitemid 20358394)
17. van den Engel-Hoek L, Erasmus CE, van Bruggen HW, et al: Dysphagia in spinal muscular atrophy type II: More than a bulbar problem? Neurology 2009;73(21):1787-1791.
18. Yuan N, Wang CH, Trela A, Albanese CT: Laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation may improve survival in type I and severe type II spinal muscular atrophy. J Child Neurol 2007;22(6):727-731. (Pubitemid 47034378)
19. Granata C, Merlini L, Magni E, Marini ML, Stagni SB: Spinal muscular atrophy: Natural history and orthopaedic treatment of scoliosis. Spine (Phila Pa 1976) 1989;14(7):760-762. (Pubitemid 19184940)
20. Schwentker EP, Gibson DA: The orthopaedic aspects of spinal muscular atrophy. J Bone Joint Surg Am 1976;58(1):32-38.
21. Riddick MF, Winter RB, Lutter LD: Spinal deformities in patients with spinal muscle atrophy: A review of 36 patients. Spine (Phila Pa 1976) 1982;7(5):476-483. (Pubitemid 13196819)
22. Daher YH, Lonstein JE, Winter RB, Bradford DS: Spinal surgery in spinal muscular atrophy. J Pediatr Orthop 1985;5(4):391-395. (Pubitemid 15060629)
23. 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(4):501-508. (Pubitemid 19198290)
24. Robinson D, Galasko CS, Delaney C, Williamson JB, Barrie JL: Scoliosis and lung function in spinal muscular atrophy. Eur Spine J 1995;4(5):268-273.
25. Aprin H, Bowen JR, MacEwen GD, Hall JE: Spine fusion in patients with spinal muscular atrophy. J Bone Joint Surg Am 1982;64(8):1179-1187. (Pubitemid 13244011)
26. Granata C, Cervellati S, Ballestrazzi A, Corbascio M, Merlini L: Spine surgery in spinal muscular atrophy: Long-term results. Neuromuscul Disord 1993;3(3):207-215. (Pubitemid 23250405)
27. Sponseller PD, Yang JS, Thompson GH, et al: Pelvic fixation of growing rods: Comparison of constructs. Spine (Phila Pa 1976) 2009;34(16):1706-1710.
28. Piasecki JO, Mahinpour S, Levine DB: Long-term follow-up of spinal fusion in spinal muscular atrophy. Clin Orthop Relat Res 1986; (207): 44-54.
29. Dorr JR, Brown JC, Perry J: Results of posterior spinal fusion in patients with spinal muscular atrophy: A review of 25 cases. J Bone Joint Surg Am 1973;55:436-437.
30. Brown JC, Zeller JL, Swank SM, Furumasu J, Warath SL: Surgical and functional results of spine fusion in spinal muscular atrophy. Spine (Phila Pa 1976) 1989;14(7):763-770. (Pubitemid 19184941)
31. Broom MJ, Banta JV, Renshaw TS: Spinal fusion augmented by luque-rod segmental instrumentation for neuromuscular scoliosis. J Bone Joint Surg Am 1989;71(1):32-44. (Pubitemid 19070389)
32. McElroy MJ, Shaner AC, Crawford TO, et al: Growing rods for scoliosis in spinal muscular atrophy: Structural effects, complications, and hospital stays. Spine (Phila Pa 1976) 2011;36(16):1305-1311.
33. Modi HN, Suh SW, Hong JY, Cho JW, Park JH, Yang JH: Treatment and complications in flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy) with posterior-only pedicle screw instrumentation. Eur Spine J 2010;19(3):384-393.
34. Suh SW, Modi HN, Yang J, Song HR, Jang KM: Posterior multilevel vertebral osteotomy for correction of severe and rigid neuromuscular scoliosis: A preliminary study. Spine (Phila Pa 1976) 2009;34(12):1315-1320.
35. Modi HN, Suh SW, Song HR, Fernandez HM, Yang JH: Treatment of neuromuscular scoliosis with posterioronly pedicle screw fixation. J Orthop Surg Res 2008;3:23.
36. Modi HN, Suh SW, Song HR, Lee SH, Yang JH: Correction of apical axial rotation with pedicular screws in neuromuscular scoliosis. J Spinal Disord Tech 2008;21(8):606-613.
37. 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(2):175-179. (Pubitemid 351144708)
38. White KK, Song MK, Frost N, Daines BK: VEPTRTM growing rods for earlyonset neuromuscular scoliosis: Feasible and effective. Clin Orthop Relat Res 2011;469(5):1335-1341.
39. Bridwell KH, Baldus C, Iffrig TM, Lenke LG, Blanke K: Process measures and patient/parent evaluation of surgical management of spinal deformities in patients with progressive flaccid neuromuscular scoliosis (Duchenne's muscular dystrophy and spinal muscular atrophy). Spine (Phila Pa 1976) 1999;24(13):1300-1309. (Pubitemid 29300343)
40. Canavese F, Sussman MD: Strategies of hip management in neuromuscular disorders: Duchenne muscular dystrophy, spinal muscular atrophy, Charcot-Marie-Tooth Disease and arthrogryposis multiplex congenita. Hip Int 2009;19(suppl 6):S46-S52.
41. Sporer SM, Smith BG: Hip dislocation in patients with spinal muscular atrophy. J Pediatr Orthop 2003;23(1):10-14. (Pubitemid 36015450)
42. Zenios M, Sampath J, Cole C, Khan T, Galasko CS: Operative treatment for hip subluxation in spinal muscular atrophy. J Bone Joint Surg Br 2005;87(11):1541-1544. (Pubitemid 41723101)
43. Thompson CE, Larsen LJ: Recurrent hip dislocation in intermediate spinal atrophy. J Pediatr Orthop 1990;10(5):638-641. (Pubitemid 20299350)
44. Granata C, Magni E, Merlini L, Cervellati S: Hip dislocation in spinal muscular atrophy. Chir Organi Mov 1990;75(2):177-184.
45. Wang HY, Ju YH, Chen SM, Lo SK, Jong YJ: Joint range of motion limitations in children and young adults with spinal muscular atrophy. Arch Phys Med Rehabil 2004;85(10):1689-1693. (Pubitemid 39349416)
46. Fujak A, Kopschina C, Forst R, Gras F, Mueller LA, Forst J: Fractures in proximal spinal muscular atrophy. Arch Orthop Trauma Surg 2010;130(6):775-780.