Phenotypic features of severe familial generalized idiopathic torsion dystonia (ITD)

A. R. Bentivoglio, E. Cassette, G. Defazio, M. De Mari, A. Albanese, P. Tonali

Research output: Contribution to journalArticle

Abstract

We present three patients affected by ITD belonging to a large Italian family. They were the only family members reportedly affected by dystonia. Index patient was a 5 2-year-old woman affected by generalized dystonia, started in the neck at the age of 40 years. In her 30year-old son the first symptom was spasmodic dysphonia (age at onset: 14 years). In her 26year-old daughter the first symptom was writer's cramp (age at onset: 11 years); in both the disease rapidly progressed to generalized ITD. It is remarkable that, in this family, anticipation of the age at symptoms onset between two generations occurred.

Original languageEnglish
Pages (from-to)133
Number of pages1
JournalItalian Journal of Neurological Sciences
Volume18
Issue number4
Publication statusPublished - 1997

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Dystonia Musculorum Deformans
Age of Onset
Dystonia
Nuclear Family
Dystonic Disorders
Dysphonia
Neck

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Bentivoglio, A. R., Cassette, E., Defazio, G., De Mari, M., Albanese, A., & Tonali, P. (1997). Phenotypic features of severe familial generalized idiopathic torsion dystonia (ITD). Italian Journal of Neurological Sciences, 18(4), 133.

Phenotypic features of severe familial generalized idiopathic torsion dystonia (ITD). / Bentivoglio, A. R.; Cassette, E.; Defazio, G.; De Mari, M.; Albanese, A.; Tonali, P.

In: Italian Journal of Neurological Sciences, Vol. 18, No. 4, 1997, p. 133.

Research output: Contribution to journalArticle

Bentivoglio, AR, Cassette, E, Defazio, G, De Mari, M, Albanese, A & Tonali, P 1997, 'Phenotypic features of severe familial generalized idiopathic torsion dystonia (ITD)', Italian Journal of Neurological Sciences, vol. 18, no. 4, pp. 133.
Bentivoglio, A. R. ; Cassette, E. ; Defazio, G. ; De Mari, M. ; Albanese, A. ; Tonali, P. / Phenotypic features of severe familial generalized idiopathic torsion dystonia (ITD). In: Italian Journal of Neurological Sciences. 1997 ; Vol. 18, No. 4. pp. 133.
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