Skip to main content
SpringerLink
Log in

Clinical study of proximal spinal muscular atrophy. Report on 89 cases

  • Original Articles
  • Published:
The Italian Journal of Neurological Sciences Aims and scope Submit manuscript

Abstract

A report on 89 cases of proximal Spinal Muscular Atrophy with observations on the clinical features, criteria of classification and modes of inheritance. The various forms into which SMA is divided probably represent a single disease that may begin at any age and may vary in severity, due, as a rule, to an autosomal recessive gene.

Sommario

Gli autori riportano le proprie esperienze su 89 casi di amiotrofie spinali prossimali facendo alcune considerazioni sulle caratteristiche cliniche. Nel discutere i criteri di classificazione e le modalità di trasmissione, gli autori suggeriscono l'ipotesi che le singole forme in cui è divisa l'amiotrofia spinale prossimale possano essere considerate come una malattia unitaria con ampia variabilità per età di esordio e gravità, dovuta generalmente, alla trasmissione di un gene autosomico recessivo.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Bouswma G., Van Wijngaarden G.K.:Spinal Muscular atrophy and hypertrophy of the calves. J. Neurol. Sci., 44: 275–279, 1980.

    PubMed  Google Scholar 

  2. Buchthal F., Olsen P.Z.:Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain, 93: 15–25, 1970.

    PubMed  CAS  Google Scholar 

  3. Dubowitz V.:Infantile muscular atrophy. A prospective study with particular reference to a slowly progressive variety. Brain, 87: 707–719, 1964.

    PubMed  CAS  Google Scholar 

  4. Dubowitz V.:Muscle disorders in Childhood pp. 146–175. Saunders Company Ltd London, Philadelphia Toronto, 1978.

    Google Scholar 

  5. Emery A.E.H.:The nosology of the Spinal Muscular Atrophies. J. Med. Genet. 8: 481–485, 1971.

    PubMed  CAS  Google Scholar 

  6. Emery A.E.H., Hausmanowa-Petrusewicz I., Davie A.M., Holloway S., Skinner R., Borkowska J.:International collaborative study on the Spinal Muscular A trophies Part. I. Analysis of clinical and laboratory data. J. Neurol. Sci., 29: 83–94, 1976.

    PubMed  CAS  Google Scholar 

  7. Emery A.E.H., Davie A.M., Holloway D., Skinner R.:International collaborative study of the Spinal Muscular Atrophies Part II. Analysis of generic data. J. Neurol. Sci, 30: 375–384. 1976.

    PubMed  CAS  Google Scholar 

  8. Fried K., Emery A.E.H.:Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type II (Kugelberg-Welander disease). Clin. Genet., 2: 203–209. 1971.

    Article  PubMed  CAS  Google Scholar 

  9. Gamstorp I.:Progressive spinal muscular atrophy with onset in infancy or early childhood. Acta Paed. Scand., 56: 408–423, 1967.

    CAS  Google Scholar 

  10. Gardner-Medwin D., Hudgson P., Walton J.M.:Benign spinal muscular atrophy arising in childhood and adolescence. J. Neurol. Sci., 5: 121–158, 1967.

    PubMed  CAS  Google Scholar 

  11. Hausmanowa-Petrusewicz I., Zaremba J., Borkowska J.:Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved? J. Neurol. Sci., 43: 313–327, 1979.

    Google Scholar 

  12. Hausmanowa-Petrusewicz I., Borkowska J., Zaremba J.:Benign Juvenile Pseudodystrophic Spinal Muscular Atrophy. 131–137 in Human Motor Neuron Diseases edited by L.P. Rowland. Raven Press, New York, 1982.

    Google Scholar 

  13. Lyon M.F.:Sex chromatin and gene action in the x-chromosome. Amer. J. Hum. Genet. 14: 135–147, 1962.

    PubMed  CAS  Google Scholar 

  14. Marsden C.D.:Inherited neuronal atrophy and degeneration predominantly of lower motor neurons, in: Dyck P.J., Tjomas P.K., Lambert E.M. Peripheral Neuropathy. WB Saunders Company Philadelphia pp. 771–790, 1975.

    Google Scholar 

  15. Meadows J.C., Marsden C.D., Harriman D.G.F.:Chronic spinal muscular atrophy in adult. Part I. The Kugelberg-Welander Syndrome. J. Neurol. Sci., 9: 527–550, 1069.

    Google Scholar 

  16. Moosa A., Dubowitz V.:Motor nerve conduction velocity in Spinal Muscular Atrophy of childhood. Arch. Dis. Child, 51: 974–977, 1976.

    Article  PubMed  CAS  Google Scholar 

  17. Munsat T.L., Woods R., Fowler W., Pearson CM.:Neurogenic muscle atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann disease. Brain, 9: 92, 1969.

    Google Scholar 

  18. Namba T., Aberfeld D.C., Grob D.:Chronic proximal spinal muscular atrophy. J. Neurol. Sci., II: 401–423, 1970.

    Google Scholar 

  19. Pearn J.:Genetic studies of acute infantile spinal muscular atrophy (S.M.A. type I). An analysis of sex ratios, segregation ratios, and sex influence. J. Med. Genet., 15: 414–417, 1978.

    Article  PubMed  CAS  Google Scholar 

  20. Pearn J.:Autosomal dominant Spinal Muscular Atrophy. A Clinical and genetic study. J. Neurol. Sci., 38: 263–275, 1978.

    PubMed  CAS  Google Scholar 

  21. Pearn J., Bundey S., Carter C.O., Wilson J., Gardner-Medwin D., Walton J.N.:A genetic study of subacute and chronic S.M.A. in childhood. A nosological analysis of 124 index patients. J. Neurol. Sci., 37: 227–248, 1978.

    PubMed  CAS  Google Scholar 

  22. Pearn J., Hudgson P.:Anterior-horn cell degeneration and gross calf hypertrophy with adolescent onset. Lancet, 1: 1059–1061, 1978.

    PubMed  CAS  Google Scholar 

  23. Pearn J., Hudgson P., Walton J.N.:A clinical and genetic study of S.M.A. of adult onset. (The autosomal recessive form as a discrete disease entity). Brain, 101: 591–606, 1978.

    PubMed  CAS  Google Scholar 

  24. Pearn J.:Classification of S.M.A., Lancet, 1: 919–922, 1980.

    PubMed  CAS  Google Scholar 

  25. Tonali P., Anepeta L.:Osservazione di un caso di S.L.A. e di due casi di amiotrofia prossimale spinale infantile in una stessa famiglia. Rivista di Neurologia, 41: 196–217, 1971.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Istituto di Clinica Neurologica dell' Università Cattolica, Roma

    Tonali P., Servidei S., Uncini A., Restuccia D. & Galluzzi G.

  2. Sezione Laziale della Unione Italiana Lotta alla Distrofia Muscolare (U.I.L.D.M.), Italy

    Galluzzi G.

Authors
  1. Tonali P.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Servidei S.
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Uncini A.
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Restuccia D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Galluzzi G.
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Tonali, P., Servidei, S., Uncini, A. et al. Clinical study of proximal spinal muscular atrophy. Report on 89 cases. Ital J Neuro Sci 5, 423–432 (1984). https://doi.org/10.1007/BF02042627

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02042627

Key-words

Search

Navigation