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The Relationship Between Scoliosis, Spinal Bone Density, and Truncal Muscle Strength in Familial Dysautonomia Patients

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Abstract

This combined retrospective and prospective study aimed to investigate the relationship between scoliosis, spinal bone mineral density (BMD), and truncal muscle strength in patients with familial dysautonomia (FD). A total of 79 FD patients (40 male, 39 female) aged 5–44 years were included. The severity of scoliosis, lumbar spine BMD (Z-score), and truncal muscle strength were assessed. Correlations were analyzed using Pearson's correlation coefficient. Inverse correlations were observed between scoliosis severity and BMD (r = − 0.328, p = 0.001), as indicated by increasingly negative Z-score values with worsening osteoporosis. There were also inverse correlations between scoliosis and truncal muscle strength (r = − 0.595, p < 0.001). The correlation between scoliosis and age was notable up to 22 years (r = 0.421, p = 0.01), but not in the older age group (22–44 years). Our study identified inverse correlations between osteoporosis and scoliosis, as well as between scoliosis and truncal muscle strength, in FD patients. These findings suggest that there may be a relationship between bone density, muscle strength, and the severity of spinal curvature in this population. While our results highlight the potential importance of early diagnosis and management of osteoporosis, and possibly the benefits of physical therapy to strengthen truncal muscles, further research is needed to determine the direct impact of these interventions on preventing the progression of scoliosis and its associated complications in FD patients. A long-term longitudinal study could provide more insights into these relationships and inform treatment strategies for FD patients.

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Data Availability

All data and materials supporting the findings of this study are included within the manuscript. No additional datasets were generated or analyzed.

Abbreviations

FD:

Familial dysautonomia

BMD:

Bone mineral density

BMI:

Body mass index

PACS:

Picture archiving and communication system

CGRP:

Calcitonin gene-related peptide

References

  1. Maayan C, Kaplan E, Shachar S, Peleg O, Godfrey S (1987) Incidence of familial dysautonomia in Israel. Clin Genet 32(2):106–108

    Article  CAS  PubMed  Google Scholar 

  2. Lehavi O, Aizenstein O, Bercovich D, Pavzner D, Shomrat R, Orr-Urteqer A, Yaron Y (2003) Screening for familial Dysautonomia in Israel: evidence for higher carrier rate among polish Ashkenazi jews. Genet Test 7(2):139–142

    Article  CAS  PubMed  Google Scholar 

  3. Axelrod FB (2002) Hereditary sensory and autonomic neuropathies: familial dysautonomia and other HSANs. Clin Auton Res 12(1):12–14

    Google Scholar 

  4. Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP et al (2001) Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 68(3):598–605

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Anderson SL, Coli R, Daly IW, Kichula EA, Volpi SA, Ekstein J et al (2001) Familial dysautonomia is caused by mutations in the IKBKAP gene. Am J Hum Genet 68(3):753–758

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Cuajungco MP, Leyne M, Gill SP, Mull J, Lu W, Zagzag D et al (2003) Tissue-specific reduction in splicing efficiency of IKBKAPdue to the major mutation associated with familial dysautonomia. Am J Hum Genet 72(3):749–758

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Gold-von Simson G, Axelrod FB (2006) Familial dysautonomia: update and recent advances. Curr Probl Pediatr Adolesc Health Care 36(6):218–237

    Article  PubMed  Google Scholar 

  8. Bar-on E, Floman Y, Sagiv S, Katz K, Pollak RD, Maayan C (2000) Orthopaedic manifestations of familial Dysautonomia: a review of one hundred and thirty-six patients. J Bone Joint Surg Am 82(11):1563–1570

    Article  CAS  PubMed  Google Scholar 

  9. Hayek S, Laplaza FJ, Axelrod FB, Burke SW (2000) Spinal deformity in familial dysautonomia: prevalence, and results of bracing. J Bone Joint Surg Am 82(11):1558–1562

    Article  CAS  PubMed  Google Scholar 

  10. Maayan C, Bar-On E, Foldes AJ, Gesundheit B, Pollak RD (2002) Bone mineral density and metabolism in familial dysautonomia. Osteoporos Int 13(5):429–433

    Article  CAS  PubMed  Google Scholar 

  11. Barrios C, Pérez-Encinas C, Maruenda JI, Laguía M (2005) Significant ventilatory functional restriction in adolescents with mild or moderate scoliosis during maximal exercise tolerance test. Spine 30(14):1610–1615

    Article  PubMed  Google Scholar 

  12. Kramers-de Quervain IA, Müller R, Stacoff A, Grob D, Stüssi E (2004) Gait analysis in patients with idiopathic scoliosis. Eur Spine J 13(5):449–456

    Article  PubMed  PubMed Central  Google Scholar 

  13. Bruyneel AV, Chavet P, Bollini G, Allard P, Berton E, Mesure S (2009) Dynamical asymmetries in idiopathic scoliosis during forward and lateral initiation step. Eur Spine J 18(2):188–195

    Article  PubMed  PubMed Central  Google Scholar 

  14. Healey JH, Lane JM (1985) Structural scoliosis in osteoporotic women. Clinical Orthop Relat Res 195:216–223

    Article  Google Scholar 

  15. Watanabe G, Kawaguchi S, Matsuyama T, Yamashita T (2007) Correlation of scoliotic curvature with Z-score bone mineral density and body mass index in patients with osteogenesis imperfecta. Spine 32(17):488–494

    Article  Google Scholar 

  16. Cobb J (1948) Outline for the study of scoliosis. In: Instuctional course lectures (ed) American Academy of Orthopedic Surgeons. JW Edwards, Ann Arbor, MI

    Google Scholar 

  17. Maayan C, Sela O, Axelrod F, Kidron D, Hochner-Celnikier D (2000) Gynecological aspects of female familial dysautonomia. Isr Med Assoc J 2(9):679–683

    CAS  PubMed  Google Scholar 

  18. Lorenzo J, Canalis E, Raisz L (2011) Metabolic bone disease, osteoporosis. In: Williams textbook of endocrinology, 12th edn, Elsevier/Saunders Philadelphia; 1318–1320

  19. Melton LJ, Riggs BL, Keaveny TM et al (2010) Relation of vertebral deformities to bone density, structure, and strength. J Bone Miner Res 25(9):1922–1930

    Article  PubMed  PubMed Central  Google Scholar 

  20. Dede O, Akel I, Demirkiran G, Yalcin N, Marcucio R, Acaroglu E (2011) Is decreased bone mineral density associated with development of scoliosis? A bipedal osteopenic rat model. Scoliosis 6(1):24

    Article  PubMed  PubMed Central  Google Scholar 

  21. Ho-Pham LT, Nguyen UDT, Nguyen TV (2014) Association between lean mass, fat mass, and bone mineral density: a meta-analysis. J Clin Endocrinol Metab 99(1):30–38

    Article  CAS  PubMed  Google Scholar 

  22. Ness K, Apkon SD (2014) Bone health in children with neuromuscular disorders. J Pediatr Rehabil Med 7(2):133–142

    Article  PubMed  Google Scholar 

  23. Haziza M, Kremer R, Benedetti A, Trojan DA (2007Aug) Osteoporosis in a Postpolio clinic population. Arch Phys Med Rehabil 88(8):1030–1035

    Article  PubMed  Google Scholar 

  24. Maayan C, Becker Y, Gesundheit B, Girgis SI (2001) Calcitonin gene related peptide in familial dysautonomia. Neuropeptides 35:189–195

    Article  CAS  PubMed  Google Scholar 

  25. Axelrod FB (2004) Familial dysautonomia. Muscle Nerve 29(3):352–363

    Article  PubMed  Google Scholar 

  26. Naot D, Cornish J (2008) The role of peptides and receptors of the calcitonin family in the regulation of bone metabolism. Bone 43(5):813–818

    Article  CAS  PubMed  Google Scholar 

  27. Mitnick JS, Axelrod FB, Genieser NB, Becker M (1982) Aseptic necrosis in familial Dysautonomia. Radiology 142(1):89–91

    Article  CAS  PubMed  Google Scholar 

  28. Ishida K, Aota Y, Mitsugi N, Kono M, Higashi T, Kawai T, Yamada K, Niimura T, Kaneko K, Tanabe H, Ito Y, Katsuhata T, Saito T (2015) Relationship between bone density and bone metabolism in adolescent idiopathic scoliosis. Scoliosis 19(10):9

    Article  Google Scholar 

  29. Skalsky AJ, Dalal PB (2015) Common complications of pediatric neuromuscular disorders. Phys Med Rehabil Clin N Am 26(1):21–28

    Article  PubMed  Google Scholar 

  30. Sadat-Ali M, Al-Othman A, Bubshait D, Al-Dakheel D (2008) Does scoliosis causes low bone mass? A comparative study between siblings. Eur Spine J 17(7):944–947

    Article  PubMed  PubMed Central  Google Scholar 

  31. Boyde A (2002) Morphologic detail of aging bone in human vertebrae. Endocrine 17(1):5–14

    Article  CAS  PubMed  Google Scholar 

  32. Stokes IA (2007) Analysis and simulation of progressive adolescent scoliosis by biomechanical growth modulation. Eur Spine J 16(10):1621–1628

    Article  PubMed  PubMed Central  Google Scholar 

  33. Stokes IA, Gardner-Morse M (2004) Muscle activation strategies and symmetry of spinal loading in the lumbar spine with scoliosis. Spine 29(19):2103–2107

    Article  PubMed  Google Scholar 

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Acknowledgements

We thank the patients and their families for their cooperation in this study. We also acknowledge the efforts of all the staff at the Israeli FD Center, Hadassah Medical Center.

Funding

The authors grant the editors permission to reproduce copyrighted materials or signed patient consent forms. The study received IRB approval (0551-09-HMO).

Author information

Authors and Affiliations

  1. Department of Rehabilitation, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    I. Yovchev & Z. Meiner

  2. Department of Pediatrics, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    Ch. Maayan, R. Brooks & D. Cheishvili

  3. Department of Medical Imaging, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    N. Simanovsky

  4. Osteoporosis Center, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    A. J. Foldes & L. Kaplan

  5. Gerald Bronfman Department of Oncology, McGill University, Montréal, QC, Canada

    D. Cheishvili

  6. HKG Epitherapeutics, Unit 313-315, 3/F Biotech Center 2, 11 Science Park West Avenue, Shatin, Hong Kong

    D. Cheishvili

Authors
  1. I. Yovchev
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  2. Ch. Maayan
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  3. N. Simanovsky
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  4. A. J. Foldes
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  5. R. Brooks
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  6. L. Kaplan
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Contributions

IY, ChM, NS, AJF, RB, LK, ZM, DC contributed to the conception and design of the study, acquisition, analysis, and interpretation of data. IY, ChM, NS, AJF, RB, LK, ZM, DC were involved in drafting and revising the manuscript and approved the final version for publication.

Corresponding author

Correspondence to D. Cheishvili.

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Disclosure

I. Yovchev, Ch. Maayan, N. Simanovsky, A.J. Foldes, R. Brooks, I., Kaplan, Z. Meiner, and D. Cheishvili declare that they have no competing financial interests.

Ethical Approval

The study received approval from the Institutional Review Board (IRB 0551-09-HMO), with informed consent waived.

Human and Animal Rights

This research involved human participants and adhered to the ethical standards of the Institutional Review Board (IRB 0551-09-HMO). The study was conducted in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. No animal studies were carried out by the authors for this article.

Informed Consent

Informed consent was waived by the Institutional Review Board for this study due to the nature of the research.

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Yovchev, I., Maayan, C., Simanovsky, N. et al. The Relationship Between Scoliosis, Spinal Bone Density, and Truncal Muscle Strength in Familial Dysautonomia Patients. Calcif Tissue Int 114, 222–227 (2024). https://doi.org/10.1007/s00223-023-01164-2

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