Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1982 Jun;45(6):507–512. doi: 10.1136/jnnp.45.6.507

Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.

H Sugie, R Hanson, G Rasmussen, M A Verity
PMCID: PMC491427  PMID: 7119813

Abstract

We report a 7-year-old boy with progressive, early onset somatic and cranial muscle weakness associated with external ophthalmoplegia, facial weakness, type I fibre hypotrophy and myofibril degeneration. We separate this condition from congenital fibre type disproportion because of the facial weakness, ophthalmoplegia, central nucleation, and lysis in type I fibres. The case, which is similar to that described by Bender and Bender (1977), nosologically should be classified between the centronuclear myopathies and congenital fibre type disproportion, and most likely represents a congenital or neonatal disturbance of trophic interaction between nerve and muscle.

Full text

PDF
507

Images in this article

508Image
on p.508
508Image
on p.508
509Image
on p.509
509Image
on p.509
509Image
on p.509
510Image
on p.510

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Badurska B., Fidziańska A., Kamieniecka Z., Prot J., Strugalska H. Myotubular myopathy. J Neurol Sci. 1969 May-Jun;8(3):563–571. doi: 10.1016/0022-510x(69)90014-8. [DOI] [PubMed] [Google Scholar]
  2. Bethlem J., Meijer A. E., Schellens J. P., Vroom J. J. Centronuclear myopathy. Eur Neurol. 1968;1(6):325–333. doi: 10.1159/000113672. [DOI] [PubMed] [Google Scholar]
  3. Bethlem J., van Wijngaarden G. K., Meijer A. E., Hülsmann W. C. Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures. Neurology. 1969 Jul;19(7):705–710. doi: 10.1212/wnl.19.7.705. [DOI] [PubMed] [Google Scholar]
  4. Bradley W. G., Price D. L., Watanabe C. K. Familial centronuclear myopathy. J Neurol Neurosurg Psychiatry. 1970 Oct;33(5):687–693. doi: 10.1136/jnnp.33.5.687. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Campbell M. J., Rebeiz J. J., Walton J. N. Myotubular, centronuclear or Peri-Centronuclear myopathy? J Neurol Sci. 1969 May-Jun;8(3):425–443. doi: 10.1016/0022-510x(69)90003-3. [DOI] [PubMed] [Google Scholar]
  6. Cancilla P. A., Kalyanaraman K., Verity M. A., Munsat T., Pearson C. M. Familial myopathy with probable lysis of myofibrils in type I fibers. Neurology. 1971 Jun;21(6):579–585. doi: 10.1212/wnl.21.6.579. [DOI] [PubMed] [Google Scholar]
  7. Cavanagh N. P., Lake B. D., McMeniman P. Congenital fibre type disproportion myopathy. A histological diagnosis with an uncertain clinical outlook. Arch Dis Child. 1979 Oct;54(10):735–743. doi: 10.1136/adc.54.10.735. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Denborough M. A., Dennett X., Anderson R. M. Central-core disease and malignant hyperpyrexia. Br Med J. 1973 Feb 3;1(5848):272–273. doi: 10.1136/bmj.1.5848.272. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Engel A. G., Gomez M. R., Groover R. V. Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. Mayo Clin Proc. 1971 Oct;46(10):666–681. [PubMed] [Google Scholar]
  10. Engel W. K., Gold G. N., Karpati G. Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model. Arch Neurol. 1968 Apr;18(4):435–444. doi: 10.1001/archneur.1968.00470340121011. [DOI] [PubMed] [Google Scholar]
  11. Harriman D. G., Haleem M. A. Centronuclear myopathy in old age. J Pathol. 1972 Nov;108(3):237–247. doi: 10.1002/path.1711080309. [DOI] [PubMed] [Google Scholar]
  12. Hawkes C. H., Absolon M. J. Myotubular myopathy associated with cataract and electrical myotonia. J Neurol Neurosurg Psychiatry. 1975 Aug;38(8):761–764. doi: 10.1136/jnnp.38.8.761. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Inokuchi T., Umezaki H., Santa T. A case of type 1 muscle fibre hypotrophy and internal nuclei. J Neurol Neurosurg Psychiatry. 1975 May;38(5):475–482. doi: 10.1136/jnnp.38.5.475. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Kar N. C., Pearson C. M., Verity M. A. Muscle fructose 1,6-diphosphatase deficiency associated with an atypical central core disease. J Neurol Sci. 1980 Nov;48(2):243–256. doi: 10.1016/0022-510x(80)90204-x. [DOI] [PubMed] [Google Scholar]
  15. Karpati G., Carpenter S., Nelson R. F. Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease. J Neurol Sci. 1970 May;10(5):489–500. doi: 10.1016/0022-510x(70)90027-4. [DOI] [PubMed] [Google Scholar]
  16. Kinoshita M., Cadman T. E. Myotubular myopathy. Arch Neurol. 1968 Mar;18(3):265–271. doi: 10.1001/archneur.1968.00470330055005. [DOI] [PubMed] [Google Scholar]
  17. MAGEE K. R., SHY G. M. A new congenital non-progressive myopathy. Brain. 1956 Dec;79(4):610–621. doi: 10.1093/brain/79.4.610. [DOI] [PubMed] [Google Scholar]
  18. McLeod J. G., Baker W. de C., Lethlean A. K., Shorey C. D. Centronuclear myopathy with autosomal dominant inheritance. J Neurol Sci. 1972 Apr;15(4):375–387. doi: 10.1016/0022-510x(72)90166-9. [DOI] [PubMed] [Google Scholar]
  19. Munsat T. L., Thompson L. R., Coleman R. F. Centronuclear ("myotubular") myopathy. Arch Neurol. 1969 Feb;20(2):120–131. doi: 10.1001/archneur.1969.00480080020002. [DOI] [PubMed] [Google Scholar]
  20. Ortiz de Zarate J. C., Maruffo A. The descending ocular myopathy of early childhood; myotubular or centronuclear myopathy. Eur Neurol. 1970;3(1):1–12. doi: 10.1159/000113955. [DOI] [PubMed] [Google Scholar]
  21. Palmucci L., Bertolotto A., Monga G., Ardizzone G., Schiffer D. Histochemical and ultrastructural findings in a case of centronuclear myopathy. Eur Neurol. 1978;17(6):327–332. doi: 10.1159/000114970. [DOI] [PubMed] [Google Scholar]
  22. Radu H., Ionescu V. Nemaline (neuro) myopathy. Rod-like bodies and type I fibre atrophy in a case of congenital hypotonia with denervation. J Neurol Sci. 1972 Sep;17(1):53–60. doi: 10.1016/0022-510x(72)90022-6. [DOI] [PubMed] [Google Scholar]
  23. Serratrice G., Pellissier J. F., Faugere M. C., Gastaut J. L. Centronuclear myopathy: possible central nervous system origin. Muscle Nerve. 1978 Jan-Feb;1(1):62–69. doi: 10.1002/mus.880010109. [DOI] [PubMed] [Google Scholar]
  24. Shafiq S. A., Gorycki M. A., Asiedu S. A., Milhorat A. T. Tenotomy. Effect on the fine structure of the soleus of the rat. Arch Neurol. 1969 Jun;20(6):625–633. doi: 10.1001/archneur.1969.00480120071006. [DOI] [PubMed] [Google Scholar]
  25. Spiro A. J., Shy G. M., Gonatas N. K. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol. 1966 Jan;14(1):1–14. doi: 10.1001/archneur.1966.00470070005001. [DOI] [PubMed] [Google Scholar]
  26. van Wijngaarden G. K., Fleury P., Bethlem J., Meijer A. E. Familial "myotubular" myopathy. Neurology. 1969 Sep;19(9):901–908. doi: 10.1212/wnl.19.9.901. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES