Advertisement

Springer Nature is making Coronavirus research free. View research | View latest news | Sign up for updates

Ultrastructural aspects of muscle and nerve in Werdnig-Hoffmann disease

  • 38 Accesses

  • 9 Citations

Summary

The authors describe in biopsies from 6 cases of Werdnig-Hoffmann disease, including 2 of the more benign type, the ultrastructural typical aspects of denervation. They compare their findings with those of other workers. The striking points are the great variation in the diameter of the muscle fibres and the myofibrils, the disorganisation of the myofibrils, the sarcomeres and the filaments, with persistance of the relations between thick and thin filaments at various levels, the modifications of the Z-band and the triads in chains. The folds and the basement membrane are examined. Centrioles are present in a muscle fibre and in a satellite. Glycogen is very abundant. The nerves seem normal but some Schwann cells contain π granules which are not observed usually at the age of the patient. The end plates and a muscle spindle are normal.

This is a preview of subscription content, log in to check access.

References

  1. Afifi, A. K., Aleu, F. P., Goodgold, J., Mackay, B.: Ultrastructure of atrophic muscle in amyotrophic lateral sclerosis. Neurology (Minneap.)16, 475–481 (1966)

  2. Babel, J., Bischoff, A., Spoendlin, H.: Ultrastructure of the peripheral nervous system and sense organs, vol. 1. Stuttgart: G. Thieme 1970

  3. Brandt, S.: Werdnig-Hoffmann's infantile progressive muscular atrophy, vol. I. Copenhagen: Munksgaard 1950

  4. Byers, R. K., Banker, B. Q.: Infantile muscular, atrophy. Arch. Neurol. (Chic.)5, 140–164 (1961)

  5. Chou, S. M.: Infantile spinal muscular atrophy: Correlation between alteration in anterior spinal roots and muscle fibre atrophy. Clinical studies in myology. Proceedings of the Second Intern. Congr. on Muscle Diseases. Perth 1971. ICS 295, pp. 206–217. Amsterdam: Excerpta Medica 1974

  6. Dubowitz, V.: Infantile muscular atrophy. A prospective study with particular reference to a slowly progressive variety. Brain87, 707–718 (1964)

  7. Emery, A. E. H.: The nosology of the spinal muscular atrophies. J. med. Genetics8, 481–495 (1971)

  8. Gamstorp, I.: Progressive spinal muscular atrophy with onset in infancy or early childhood. Acta paediat. scand.56, 408–423 (1967)

  9. Gardner-Medwin, D., Hudgson, P., Walton, J. N.: Benign spinal muscular atrophy arising in childhood and adolescence. J. neurol. Sci.5, 121–158 (1967)

  10. Hausmanowa-Pétrusewicz, I., Prot, J., Sawicka E.: Le problème des formes infantiles et juvéniles de l'atrophie musculaire spinale. Rev. neurol.114, 295–306 (1966)

  11. Hausmanowa-Pétrusewicz, I., Askanas, W., Badurska, B., Emeryk, B., Fidzianska, A., Garbalinska, W., Hetnarska, L., Jedrejowska, H., Kamienicka, Z., Niebros-Dobosz, I., Prot, J., Sawicka, E.: Infantile and juvenile spinal muscular atrophy. J. neurol. Sci.6, 269–287 (1968)

  12. Lovelace, R. E., Schotland, D. L., De Napoli, R. A.: The Kugelberg-Welander syndrome. Trans. Amer. neurol. Ass.1966, 286–288

  13. Mair, W. G. P., Tomé, F. M. S.: Atlas of the ultrastructure of disease human muscle, vol. I. Livingstone: Churchill 1972

  14. Munsat, T. L., Woods, R., Fowler, W., Pearson, C. M.: Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann disease. Brain92, 9–24 (1969)

  15. Pearn, J. H., Wilson, J.: Acute Werdnig-Hoffmann disease. Acute infantile spinal muscular atrophy. Arch. Dis. Childh.48, 425–430 (1973a)

  16. Pearn, J. H., Wilson, J.: Chronic, generalized spinal muscular atrophy of infancy and childhood. Arrested Werdnig-Hoffmann disease. Arch. Dis. Childh.48, 768–774 (1973b)

  17. de Recondo, J., Fardeau, M., Lapresle, J.: Etude au microscope électronique des lésions musculaires d'atrophie neurogène par atteinte de la corne antérieure (observées dans huit cas de sclérose latérale amyotrophique). Rev. neurol.114, 169–192 (1966)

  18. Roth, R. G., Graziani, L. J., Terry, R. D., Scheinberg, L. C.: Muscle fine structure in the Kugelberg-Welander syndrome (chronic spinal muscular atrophy). J. Neuropath. exp. Neurol.24, 444–454 (1965)

  19. Roy, S., Dubowitz, V., Wolman, L.: Ultrastructure of muscle in infantile spinal muscular atrophy. J. neurol. Sci.12, 219–232 (1971)

  20. Shafiq, S. A., Milhorat, A. T., Gorycki, M. A.: Fine structure of human muscle in neurogenic atrophy. Neurology (Minneap.)17, 934–948 (1967)

  21. Thieffry, S., Arthuis, M., Bargeton, E.: Quarante cas de maladie de Werdnig-Hoffmann avec onze examens anatomiques. Rev. neurol.93, 621–644 (1955)

  22. Trevor Hughes, J., Brownell, B.: Ultrastructure of muscle in Werdnig-Hoffmann disease. J. neurol. Sci.8, 363–379 (1969)

  23. Van Haelst, U.: An electron microscopic study of muscle in Werdnig-Hoffmann's disease. Virchows Arch., Abt. A, Path. Anat.351, 291–305 (1970)

  24. Verger, P., Vital, Cl., Guillard, J. M., Eschapasse, P., Le Pennec, J. J.: Les formes «intermédiaires» de l'amyotrophie spinale infantile. Pédiatrie24, 131–143 (1969)

  25. Van Wijngaarden, G. K., Bethlem, J.: Benign infantile spinal muscular atrophy. A prospective study. Brain96, 163–170 (1973)

  26. Zellweger, H., Frank, A., Hankart, E.: Über die proximalen spinalen Muskelatrophien. Neuropädiatrie3, 327–338 (1972)

Download references

Author information

Additional information

Supported by grants from the Fonds de la Recherch Scientifique Médicale.

Dr. H. B. Szliwowski is also member of the Research Unit on Neuromuscular Diseases (Prof. C. Coërs)

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Szliwowski, H.B., Drochmans, P. Ultrastructural aspects of muscle and nerve in Werdnig-Hoffmann disease. Acta Neuropathol 31, 281–296 (1975). https://doi.org/10.1007/BF00687923

Download citation

Key words

  • Werdnig-Hoffmann Disease
  • Ultrastructure
  • Denervation
  • Muscle
  • Myofibrils
  • Centrioles