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. 1983 Feb;46(2):175–182. doi: 10.1136/jnnp.46.2.175

Congenital fibre type disproportion with unusual clinico-pathologic manifestations.

A R Sulaiman, H M Swick, D S Kinder
PMCID: PMC1027302  PMID: 6842223

Abstract

Two cases with congenital fibre type disproportion are presented. The cases are unusual in that there were significant dysmorphic features in case 1, and both cases showed electromyographic abnormalities suggestive of denervation. A third case, the father of the second patient, showed clinical features of congenital fibre type disproportion in early life but later developed the rigid spine syndrome. The spinal cord of case 3 showed atrophy and degeneration of medial neuronal group in the lumbosacral segments. The clinical and pathological features in these cases further extend the view that congenital fibre type disproportion may be seen in a variety of patients.

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Selected References

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

  1. Brooke M. H., Carroll J. E., Ringel S. P. Congenital hypotonia revisited. Muscle Nerve. 1979 Mar-Apr;2(2):84–100. doi: 10.1002/mus.880020203. [DOI] [PubMed] [Google Scholar]
  2. Brooke M. H., Engel W. K. The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies. Neurology. 1969 Jun;19(6):591–605. doi: 10.1212/wnl.19.6.591. [DOI] [PubMed] [Google Scholar]
  3. Brooke M. H., Kaiser K. K. Muscle fiber types: how many and what kind? Arch Neurol. 1970 Oct;23(4):369–379. doi: 10.1001/archneur.1970.00480280083010. [DOI] [PubMed] [Google Scholar]
  4. Clancy R. R., Kelts K. A., Oehlert J. W. Clinical variability in congenital fiber type disproportion. J Neurol Sci. 1980 Jun;46(3):257–266. doi: 10.1016/0022-510x(80)90050-7. [DOI] [PubMed] [Google Scholar]
  5. Curless R. G., Nelson M. B. Congenital fiber type disproportion in identical twins. Ann Neurol. 1977 Dec;2(6):455–459. doi: 10.1002/ana.410020603. [DOI] [PubMed] [Google Scholar]
  6. De Reuck J., Hooft C., De Coster W., van den Bossche H., Cuvelier C. A progressive congenital myopathy. Initial involvement of the diaphragm with type I muscle fiber atrophy. Eur Neurol. 1977;15(4):217–256. doi: 10.1159/000114836. [DOI] [PubMed] [Google Scholar]
  7. ENGEL W. K., CUNNINGHAM G. G. RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS. Neurology. 1963 Nov;13:919–923. doi: 10.1212/wnl.13.11.919. [DOI] [PubMed] [Google Scholar]
  8. Eisler T., Wilson J. H. Muscle fiber-type disproportion. Report of a family with symptomatic and asymptomatic members. Arch Neurol. 1978 Dec;35(12):823–826. doi: 10.1001/archneur.1978.00500360047009. [DOI] [PubMed] [Google Scholar]
  9. Fardeau M., Harpey J. P., Caille B. Disproportion congénitale des différents types de fibre musculaire, avec petitesse relative des fibres de type I. Documents morphologiques concernant les biopsies musculaires prélevées chez trois membres d'une même famille. Rev Neurol (Paris) 1975 Nov;131(11):745–766. [PubMed] [Google Scholar]
  10. Goebel H. H., Lenard H. G., Görke W., Kunze K. Fibre type disproportion in the rigid spine syndrome. Neuropadiatrie. 1977 Nov;8(4):467–477. doi: 10.1055/s-0028-1091542. [DOI] [PubMed] [Google Scholar]
  11. Kawamura Y., Dyck P. J. Lumbar motoneurons of man: III. The number and diameter distribution of large- and intermediate- diameter cytons by nuclear columns. J Neuropathol Exp Neurol. 1977 Nov;36(6):956–963. doi: 10.1097/00005072-197711000-00007. [DOI] [PubMed] [Google Scholar]
  12. Kawamura Y., O'Brien P., Okazaki H., Dyck P. J. Lumbar motoneurons of man II: the number and diameter distribution of large- and intermediate-diameter cytons in "motoneuron columns" of spinal cord of man. J Neuropathol Exp Neurol. 1977 Sep-Oct;36(5):861–870. doi: 10.1097/00005072-197709000-00010. [DOI] [PubMed] [Google Scholar]
  13. Kinoshita M., Satoyoshi E., Kumagai M. Familial type I fiber atrophy. J Neurol Sci. 1975 May;25(1):11–17. doi: 10.1016/0022-510x(75)90182-3. [DOI] [PubMed] [Google Scholar]
  14. Martin J. J., Clara R., Ceuterick C., Joris C. Is congenital fibre type disproportion a true myopathy? Acta Neurol Belg. 1976;76(5-6):335–344. [PubMed] [Google Scholar]
  15. Ringqvist M. Histochemical fiber types and fiber sizes in human masticatory muscles. Scand J Dent Res. 1971;79(5):366–368. doi: 10.1111/j.1600-0722.1971.tb02023.x. [DOI] [PubMed] [Google Scholar]
  16. Robertson W. C., Jr, Kawamura Y., Dyck P. J. Morphometric study of motoneurons in congenital nemaline myopathy and Werdnig-Hoffmann disease. Neurology. 1978 Oct;28(10):1057–1061. doi: 10.1212/wnl.28.10.1057. [DOI] [PubMed] [Google Scholar]
  17. Seay A. R., Ziter F. A., Petajan J. H. Rigid spine syndrome. A type I fiber myopathy. Arch Neurol. 1977 Feb;34(2):119–122. doi: 10.1001/archneur.1977.00500140073016. [DOI] [PubMed] [Google Scholar]
  18. Vignon C., Pellissier J. F., Serratrice G. Further histochemical studies on masticatory muscles. J Neurol Sci. 1980 Mar;45(2-3):157–176. doi: 10.1016/0022-510x(80)90163-x. [DOI] [PubMed] [Google Scholar]

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