European Spine Journal

, Volume 21, Supplement 4, pp 499–504 | Cite as

Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers

  • Shiro Imagama
  • Noriaki Kawakami
  • Taichi Tsuji
  • Tetsuya Ohara
  • Naoki Ishiguro
Case Report



To report the first case of surgical treatment for severe kyphoscoliosis associated with respiratory disorder in a patient with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1), including management of the possible onset of malignant hyperthermia (MH) in general anesthesia.

Summary of background data

CNMDU1 is rare among congenital neuromuscular diseases, and surgery for spinal deformity in CNMDU1 has not been described. Onset of MH in general anesthesia is a concern in this disease.


A 13-year-old female with motor retardation, suspected myopathy, and severe spinal deformity was followed at another pediatric hospital before referral to Meijo Hospital. Symptoms at the initial consultation were mild general muscular weakness and muscular atrophy. The rib hump was 60° and trunk balance was poor. The tendon reflex showed hyporeflexia, and blood tests were normal. Vital capacity was 0.69 L and forced expiratory volume percentage in 1 s was 75.5%, showing a restrictive and obstructive ventilatory defect. A plain radiograph showed severe kyphoscoliosis with thoracic scoliosis of 130° (T5–L1) and thoracic kyphosis of 110° (T2–T12) with almost no flexibility in bending or traction film.


After preoperative halo traction for 2 months, one-stage anterior and posterior correction and fusion from T2 to L3 was conducted. MH did not occur, but recovery of respiratory function required 8 days by intubation after surgery. Postoperatively, thoracic kyphosis improved to 25° and thoracic scoliosis was 66° (correction rate: 49%). Pathological results of an intraoperative muscle biopsy from the paraspinal muscles confirmed the diagnosis of CNMDU1. At 6 years after surgery, the patient has no problems in daily life and no respiratory difficulty.


Spinal deformity in CNMDU1 has a risk of severe progression, which makes early diagnosis by biopsy important. The surgery may be recommended before severe progression of spinal deformity and respiratory disorder. Perioperative MH is a concern, but can be managed by appropriate procedures.


Congenital neuromuscular disease with uniform type 1 fibers Congenital neuromuscular disease Severe kyphoscoliosis Surgical correction Malignant hyperthermia 


  1. 1.
    Une Y, Haraguchi H (1980) Congenital myopathy with type 2 fiber deficiency and without specific structural abnormalities. No To Hattatsu 12:554–556Google Scholar
  2. 2.
    Oh SJ, Danon MJ (1983) Nonprogressive congenital neuromuscular disease with uniform type 1 fiber. Arch Neurol 40:147–150PubMedCrossRefGoogle Scholar
  3. 3.
    Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I (2008) Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology 70:114–122. doi:10.1212/01.wnl.0000269792.63927.86 PubMedCrossRefGoogle Scholar
  4. 4.
    Giometti CS, Danon MJ (1990) The expression of myosin light chains and tropomyosin in human muscle biopsies with histochemical type 1 and type 2 fiber deficiency. Muscle Nerve 13:209–214. doi:10.1002/mus.880130307 PubMedCrossRefGoogle Scholar
  5. 5.
    Jong YJ, Huang SC, Liu GC, Chiang CH (1991) Mental retardation in congenital nonprogressive myopathy with uniform type 1 fibers. Brain Dev 13:444–446PubMedCrossRefGoogle Scholar
  6. 6.
    Huang ML, Tsai CH, Lee CC (1998) Congenital myopathy with uniform type 1 fiber predominance and type 2 fiber hypoplasia: report of one case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 39:62–64PubMedGoogle Scholar
  7. 7.
    Kitagawa Y, Hashimoto K, Kuriyama M (2000) Hypertrophic branchial myopathy with uniform predominance of type 1 fibres. Case report. Scand J Plast Reconstr Surg Hand Surg 34:391–396PubMedCrossRefGoogle Scholar
  8. 8.
    Korematsu S, Imai K, Sato K, Maeda T, Suenobu S, Kojo M, Izumi T (2006) Congenital neuromuscular disease with uniform type-1 fibers, presenting early stage dystrophic muscle pathology. Brain Dev 28:63–66. doi:10.1016/j.braindev.2005.04.007 PubMedCrossRefGoogle Scholar
  9. 9.
    Na SJ, Kang SW, Lee KO, Lee KY, Kim TS, Choi YC (2004) A case of congenital neuromuscular disease with uniform type 1 fiber. Yonsei Med J 45:150–152 [pii]: 200402150PubMedGoogle Scholar
  10. 10.
    Sakamoto HM, Yoshioka M, Tsuji M, Kuroki S, Higuchi Y, Nonaka I, Nishino I (2006) A case of congenital neuromuscular disease with uniform type 1 fibers. Brain Dev 28:202–205. doi:10.1016/j.braindev.2005.06.008 PubMedCrossRefGoogle Scholar
  11. 11.
    Tojo M, Ozawa M, Nonaka I (2000) Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family. Brain Dev 22:262–264 [pii]: S0387-7604(00)00108-XPubMedCrossRefGoogle Scholar
  12. 12.
    Shy GM, Engel WK, Somers JE, Wanko T (1963) Nemaline myopathy. A new congenital myopathy. Brain 86:793–810PubMedCrossRefGoogle Scholar
  13. 13.
    Magee KR, Shy GM (1956) A new congenital non-progressive myopathy. Brain 79:610–621PubMedCrossRefGoogle Scholar
  14. 14.
    Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL (2000) Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet 9:2223–2229PubMedCrossRefGoogle Scholar
  15. 15.
    Clarke NF, North KN (2003) Congenital fiber type disproportion–30 years on. J Neuropathol Exp Neurol 62:977–989PubMedGoogle Scholar
  16. 16.
    Mertz KD, Jost B, Glatzel M, Min K (2005) Progressive scoliosis in central core disease. Eur Spine J 14:900–905. doi:10.1007/s00586-005-0938-y PubMedCrossRefGoogle Scholar
  17. 17.
    Miyamoto K, Shimizu K, Matsumoto S, Sumida H, Iida H, Hosoe H (2007) Surgical treatment of scoliosis associated with central core disease: minimizing the effects of malignant hyperthermia with provocation tests. J Pediatr Orthop B 16:239–242. doi:10.1097/BPB.0b013e3280107014 PubMedCrossRefGoogle Scholar
  18. 18.
    Nagai T, Tsuchiya Y, Maruyama A, Takemitsu M, Nonaka I (1994) Scoliosis associated with central core disease. Brain Dev 16:150–152 [pii]: 0387-7604(94)90053-1PubMedCrossRefGoogle Scholar
  19. 19.
    Pellegrini G, Barbieri S, Moggio M, Cheldi A, Scarlato G, Minetti C (1985) A case of congenital neuromuscular disease with uniform type I fibers, abnormal mitochondrial network and jagged Z-line. Neuropediatrics 16:162–166. doi:10.1055/s-2008-1059533 PubMedCrossRefGoogle Scholar
  20. 20.
    Bylund P, Jansson E, Dahlberg E, Eriksson E (1987) Muscle fiber types in thoracic erector spinae muscles. Fiber types in idiopathic and other forms of scoliosis. Clin Orthop Relat Res 214:222–228PubMedGoogle Scholar
  21. 21.
    Ford DM, Bagnall KM, McFadden KD, Greenhill BJ, Raso VJ (1984) Paraspinal muscle imbalance in adolescent idiopathic scoliosis. Spine (Phila Pa 1976) 9:373–376CrossRefGoogle Scholar
  22. 22.
    Merlini L, Mattutini P, Bonfiglioli S, Granata C (1987) Non-progressive central core disease with severe congenital scoliosis: a case report. Dev Med Child Neurol 29:106–109PubMedCrossRefGoogle Scholar
  23. 23.
    Esteve E, Eltit JM, Bannister RA, Liu K, Pessah IN, Beam KG, Allen PD, Lopez JR (2010) A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR. J Gen Physiol 135:619–628. doi:10.1085/jgp.200910328 PubMedCrossRefGoogle Scholar
  24. 24.
    Girard T, Suhner M, Levano S, Singer M, Zollinger A, Hofer CK (2008) A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser. Anesth Analg 107:1953–1955. doi:10.1213/ane.0b013e3181857903 PubMedCrossRefGoogle Scholar
  25. 25.
    Kaufmann A, Kraft B, Michalek-Sauberer A, Weigl LG (2008) Novel ryanodine receptor mutation that may cause malignant hyperthermia. Anesthesiology 109:457–464. doi:10.1097/ALN.0b013e318182a93b PubMedCrossRefGoogle Scholar
  26. 26.
    Foster RN, Boothroyd KP (2008) Caesarean section in a complicated case of central core disease. Anaesthesia 63:544–547. doi:10.1111/j.1365-2044.2007.05411.x PubMedCrossRefGoogle Scholar
  27. 27.
    Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA (2003) Central core disease: clinical, pathological, and genetic features. Arch Dis Child 88:1051–1055PubMedCrossRefGoogle Scholar
  28. 28.
    Treves S, Vukcevic M, Jeannet PY, Levano S, Girard T, Urwyler A, Fischer D, Voit T, Jungbluth H, Lillis S, Muntoni F, Quinlivan R, Sarkozy A, Bushby K, Zorzato F (2011) Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Hum Mol Genet 20:589–600. doi:10.1093/hmg/ddq506 PubMedCrossRefGoogle Scholar
  29. 29.
    Denborough M (1998) Malignant hyperthermia. Lancet 352:1131–1136. doi:10.1016/S0140-6736(98)03078-5 PubMedCrossRefGoogle Scholar
  30. 30.
    Okutani R, Arashi D, Tsujii K (2010) Anesthetic case in a child with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1). J Anesth 24:797–800. doi:10.1007/s00540-010-0977-3 PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Shiro Imagama
    • 1
  • Noriaki Kawakami
    • 2
  • Taichi Tsuji
    • 2
  • Tetsuya Ohara
    • 2
  • Naoki Ishiguro
    • 1
  1. 1.Department of Orthopaedic SurgeryNagoya University Graduate School of MedicineNagoyaJapan
  2. 2.Department of Orthopaedic Surgery and Spine CenterMeijo HospitalNagoyaJapan

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