The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases

E. Bertini, R. Marini, G. Sabetta, G. P. Palmieri, L. G. Spagnoli, M. L. Vaccario, T. de Barsy

Research output: Contribution to journalArticle

Abstract

Three female cases of the "rigid spine" syndrome are reported and associated with different nosological entities. One patient was affected by congenital muscular dystrophy and one by a morphological pattern of fibre type disproportion with type I atrophy. The third patient showed very peculiar morphological changes on a muscle biopsy specimen resembling a vacuolar myopathy, which is rarely described in association with the rigid spine syndrome. The importance of an adequate investigation of the rigid spine syndrome and the recognition of the presence or absence of cardiomyopathy, if there is to be correct genetic counselling, is discussed.

Original languageEnglish
Pages (from-to)248-253
Number of pages6
JournalJournal of Neurology
Volume233
Issue number4
DOIs
Publication statusPublished - Aug 1986

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Muscular Dystrophies
Genetic Counseling
Cardiomyopathies
Atrophy
Biopsy
Muscles
Rigid spine syndrome
Vacuolar myopathy

Keywords

  • Cardiomyopathy
  • Congenital fibre type disproportion
  • Congenital muscular dystrophy
  • Emery-Dreifuss dystrophy
  • Rigid spine syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Bertini, E., Marini, R., Sabetta, G., Palmieri, G. P., Spagnoli, L. G., Vaccario, M. L., & de Barsy, T. (1986). The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases. Journal of Neurology, 233(4), 248-253. https://doi.org/10.1007/BF00314029

The spectrum of the so-called rigid spine syndrome : nosological considerations and report of three female cases. / Bertini, E.; Marini, R.; Sabetta, G.; Palmieri, G. P.; Spagnoli, L. G.; Vaccario, M. L.; de Barsy, T.

In: Journal of Neurology, Vol. 233, No. 4, 08.1986, p. 248-253.

Research output: Contribution to journalArticle

Bertini, E, Marini, R, Sabetta, G, Palmieri, GP, Spagnoli, LG, Vaccario, ML & de Barsy, T 1986, 'The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases', Journal of Neurology, vol. 233, no. 4, pp. 248-253. https://doi.org/10.1007/BF00314029
Bertini, E. ; Marini, R. ; Sabetta, G. ; Palmieri, G. P. ; Spagnoli, L. G. ; Vaccario, M. L. ; de Barsy, T. / The spectrum of the so-called rigid spine syndrome : nosological considerations and report of three female cases. In: Journal of Neurology. 1986 ; Vol. 233, No. 4. pp. 248-253.
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