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Werdnig-Hoffmann-Wohlfart-Kugelberg-Welander Disease: Nosological Unity and Clinical Variability in Intrafamilial Cases

Published online by Cambridge University Press:  01 August 2014

B. Ghetti ,
A. Amati ,
M.V. Turra ,
A. Pacini ,
M. Del Vecchio  and
G.C. Guazzi
B. Ghetti
Affiliation:
Department of Neurology and Psychiatry, University of Naples
A. Amati
Affiliation:
Department of Neurology and Psychiatry, University of Naples
M.V. Turra
Affiliation:
Department of Neurology and Psychiatry, University of Naples
A. Pacini
Affiliation:
Department of Neurology and Psychiatry, University of Naples
M. Del Vecchio
Affiliation:
Department of Neurology and Psychiatry, University of Naples
G.C. Guazzi*
Affiliation:
Department of Neurology and Psychiatry, University of Naples
*
Clinica delle Malattie Nervöse e Mentali dell'Università, 80138 Napoli, Italy

Summary

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Two members of an Italian family are affected with progressive spinal muscular atrophy. One, a male, has had the disease since his early infancy and, though severely disabled, is still living at the age of 13. In his sister, the first symptoms appeared at the age of 15, and the disease seems to be rapidly advancing. Their parents were consanguineous. Their mother, however, married twice, her second marriage being nonconsan-guineous and producing no affected children.

The study of this family and an analysis of the literature led to the following conclusions: (a) early onset of the disease does not necessarily mean that the course will be malignant; (b) the disease usually has a similar onset and course in subjects belonging to the same family.

In many families, however (and these have been examined in the present paper) malignant Werdnig-Hoffmann disease is found to coexist with the Werdnig-Hoffmann disease with a prolonged course, the Wohlfart-Kugelberg-Welander disease with infantile onset, and the Wohlfart-Kugelberg-Welander disease with juvenile onset. We feel, therefore, that from a genetic point of view all these forms should be included into one and the same group.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 20 , Issue 1 , January 1971 , pp. 43 - 58
Copyright
Copyright © The International Society for Twin Studies 1971

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