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Fractures in proximal spinal muscular atrophy

  • Osteoporotic Fracture Management
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Archives of Orthopaedic and Trauma Surgery Aims and scope Submit manuscript

Abstract

Introduction

Fractures are a common problem for patients with spinal muscular atrophy (SMA).

Patients

A total of 131 patients with proximal SMA with an average age of 13.2 ± 9.2 years (0.7–65.6) were evaluated retrospectively. In 60 patients 94 different fractures were observed. The group consisted of 11 patients with type Ib, 81 with type II, 33 with type IIIa, 4 with IIIb and 2 with type IV. 38 of 81 SMA II patients and 17 of 33 SMA IIIa patients had suffered fractures at an average age of 8.3 ± 5.3 years (0.0–25.1) (SMA II) and 9.3 ± 6.0 years (0.0–22.1) (SMA IIIa).

Results

The most frequent fractures were of the femur (50), usually distal, of the lower leg and ankle (15), and upper arm (9). The distribution of fractures was different in SMA II and SMA IIIa. Most of the fractures could be treated conservatively. Only two femoral shaft fractures, one upper arm and a lower arm fracture were treated surgically by osteosynthesis.

Conclusion

Competent fracture treatment is an important part of the orthopaedic care of SMA patients.

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References

  1. Rudnik-Schöneborn S, de Visser M, Zerres K (2004) Spinal muscular atrophies. In: Engel A, Franzini-Armstrong C (eds) Myology. McGraw-Hill, New York, pp 1845–1864

    Google Scholar 

  2. Forst R, Ingenhorst A, Mortier W (2003) Neuromuskuläre Systemerkrankungen. In: Zichner L (ed) Orthopädie und Orthopädische Chirurgie. Systemerkrankungen. Thieme, Stuttgart, pp 243–254

    Google Scholar 

  3. Fujak A, Wollinsky KH, Forst R (2007) Proximale Spinale Muskelatrophien (SMA). Z Orthop Ihre Grenzgeb 145:233–252

    Article  CAS  Google Scholar 

  4. Ballestrazzi A, Gnudi S, Magni E, Granata C (1989) Osteopenia in spinal muscular atrophy. In: Merlini L, Granata C, Dubowitz V (eds) Current concepts in childhood spinal muscular atrophy. Springer, Wien, pp 215–219

    Google Scholar 

  5. Hsu JD (1979) Extremity fractures in children with neuromuscular disease. Johns Hopkins Med J 145:89–93

    CAS  PubMed  Google Scholar 

  6. Hsu JD (1982) Skeletal changes in children with neuromuscular disorders. Prog Clin Biol Res 101:553–557

    CAS  PubMed  Google Scholar 

  7. Vestergaard P, Glerup H, Steffensen BF, Rejnmark L, Rahbek J, Moseklide L (2001) Fracture risk in patients with muscular dystrophy and spinal muscular atrophy. J Rehabil Med 33:150–155

    Article  CAS  PubMed  Google Scholar 

  8. Khatri IA, Chaudhry US, Seikaly MG, Browne RH, Iannaccone ST (2008) Low bone mineral density in spinal muscular atrophy. J Clin Neuromuscular Dis 10:11–17

    Article  Google Scholar 

  9. Kurihara N, Menaa C, Maeda H, Haile DJ, Reddy SV (2001) Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation. J Biol Chem 276:41035–41039

    Article  CAS  PubMed  Google Scholar 

  10. Shanmugarajan S, Swoboda KJ, Iannaccone ST, Ries WL, Maria BL, Reddy SV (2007) Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. J Child Neurol 22:967–973

    Article  PubMed  Google Scholar 

  11. Granata C, Giannini S, Villa D, Bonfiglioli Stagni S, Merlini L (1991) Fractures in myopathies. Chir Organi Mov 76:39–45

    CAS  PubMed  Google Scholar 

  12. Borochowitz Z, Glick B, Blazer S (1991) Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. J Med Genet 28:345–348

    Article  CAS  PubMed  Google Scholar 

  13. Kelly TE, Amoroso K, Ferre M, Blanco J, Allinson P, Prior TW (1999) Spinal muscular atrophy variant with congenital fractures. Am J Med Genet 87:65–68

    Article  CAS  PubMed  Google Scholar 

  14. Courtens W, Johansson AB, Dachy B, Avni F, Telerman-Toppet N, Scheffer H (2002) Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance. J Med Genet 39:74–77

    Article  CAS  PubMed  Google Scholar 

  15. Felderhoff-Mueser U, Grohmann K, Harder A, Stadelmann C, Zerres K, Bührer C, Obladen M (2002) Severe spinal muscular atrophy variant associated with congenital bone fractures. J Child Neurol 17:718–721

    Article  PubMed  Google Scholar 

  16. Van Toorn R, Davies J, Wilmshurst JM (2002) Spinal muscular atrophy with congenital fractures: postmortem analysis. J Child Neurol 17:721–723

    Article  PubMed  Google Scholar 

  17. Kizilates SU, Talim B, Sel K, Köse G, Caglar M (2005) Severe lethal spinal muscular atrophy variant with arthrogryposis. Pediatr Neurol 32:201–204

    Article  PubMed  Google Scholar 

  18. Vaidla E, Talvik I, Kulla A, Sibul H, Maasalu K, Metsvaht T, Piirsoo A, Talvik T (2007) Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect. J Child Neurol 22:67–70

    Article  PubMed  Google Scholar 

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The authors declare that they have no conflicts of interest.

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Correspondence to Albert Fujak.

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Fujak, A., Kopschina, C., Forst, R. et al. Fractures in proximal spinal muscular atrophy. Arch Orthop Trauma Surg 130, 775–780 (2010). https://doi.org/10.1007/s00402-010-1096-1

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  • DOI: https://doi.org/10.1007/s00402-010-1096-1

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