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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

References

Adams, R. D., Denny-Brown, D., Pearson, C. M. (1962). Disease of Muscle. Ed. Harper & Brothers, New York.Google Scholar
Amick, L. D., Smith, H. L., Johnson, W. W. (1966). An unusual spectrum of progressive spinal muscular atrophy. Acta Neurol. Scand., 42: 275–295.Google Scholar
Brandt, S. (1950). Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy. Ed. Ejnar Munksgaard, Copenhagen.Google Scholar
Byers, E. K., Banker, B. Q. (1961). Infantile muscular atrophy. Arch. Neurol., 5: 140–164.CrossRefGoogle ScholarPubMed
Castaigne, P., Cambier, J., Laplane, D., Escourolle, R., Boudouresques, J., De Paillerets, F. (1963). Amyotrophic neurogène familiale pseudo-myopathique de la seconde enfance. Rev. Neurol. (Paris), 109: 13–20.Google Scholar
Castellotti, V., Scarlato, G. (1966). L'amiotrofia tipo Wohlfart-Kugelberg-Welander. Illustrazione di due casi. Sist. Nerv., 18: 315–326.Google Scholar
Dubowitz, V. (1964). Infantile muscular atrophy. A prospective study with particular reference to a slowly progressive variety. Brain, 87: 707–718.Google Scholar
Dunne, P. B., Chutorian, A. M. (1966). The relationship between infantile and juvenile spinal muscular atrophy. Neurology (Minneap.), 16: 306.Google Scholar
Gamstorp, I. (1967). Progressive spinal muscular atrophy with onset in infancy or early childhood. Acta Paediat. Scand., 56: 408–423.Google Scholar
Gardner-Medwin, D., Hudgson, P., Walton, J. N. (1967). Benign spinal muscular atrophy arising in childhood and adolescence. J. Neurol. Sci., 5: 121–158.Google Scholar
Greenfield, J. G., Stern, R. O. (1927). The anatomical identity of the Werdnig-Hoffmann and Oppenheim forms of infantile muscular atrophy. Brain, 50: 652–686.Google Scholar
Gurdjian, E. S. (1930). Myotonia congenita. Arch. Neurol. Psychiat., 24: 52–60.Google Scholar
Hanhart, E. (1945). Die infantile progressive spinale Muskelatrophie (Werdnig-Hoffmann) als einfachrezessive, subletale Mutation auf Grund von 29 Fällen in 14 Sippen. Helv. Paediat. Acta, 1: 110.Google Scholar
Hausmanowa-Petrusewicz, I., Prot, J., Sawicka, E. (1966). Le problème des formes infantiles et juvéniles de l'atrophie musculaire spinale. Rev. Neurol. (Paris), 114: 295–306.Google Scholar
Heuyer, M., Dauphin, , Lebovici, M. (1946). Maladie de Werdnig-Hoffmann chez deux sœurs. Rev. Neurol. (Paris), 78: 608–610.Google Scholar
Krabbe, K. H. (1920). Congenital familial spinal muscular atrophies and their relation to amyotonia congenita. Brain, 43: 166–191.Google Scholar
Kugelberg, E., Welander, L. (1956). Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. Arch. Neurol. Psychiat., 75: 500–509.Google Scholar
Larbre, F., Cotton, J. B., Freycon, M. T., Hartemann, E. (1965). L'amyotrophie neurogène pseudo-myopathique (maladie de Kugelberg-Welander). Ann. Pediat. (Paris), 12: 763–767.Google Scholar
Lugaresi, E., Gambetti, P., Giovannardi Rossi, P. (1966). Chronic neurogenic muscle atrophies of infancy. Their nosological relationship with Werdnig-Hoffmann's disease. J. Neurol. Sci., 3: 399–409.Google Scholar
Magee, K. R., De Jong, R. N. (1960). Neurogenic muscular atrophy simulating muscular dystrophy. Arch. Neurol. (Chicago), 2: 677–683.Google Scholar
Martin-Sneessens, L. (1962). Formes à évolution très prolongée de l'amyotrophie spinale de Werdnig-Hoffmann. (Leur place dans le cadre des maladies abiotrophiques). J. Genet. Hum., 11: 251–269.Google Scholar
Martin-Sneessens, L., Radermecker, J. (1965). Amyotrophic neurogène classique (Werdnig-Hoffmann) et pseudo-myopathique infantile dans une fratrie. J. Genet. Hum., 14: 341–350.Google Scholar
Munsat, T. L., Woods, R., Fowler, W., Pearson, C. M. (1969). Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann disease. Brain, 92: 9–24.Google Scholar
Peters, H. A., Opitz, J. M., Goto, I., Reese, H. H. (1968). The benign proximal spinal progressive muscular atrophies. A clinical and genetical study. Acta Neurol. Scand., 44: 542–560.Google Scholar
Radermecker, J. (1951). La myatonie congénitale d'Oppenheim et la délimitation de cette affection à l'égard des atrophies spinales progressives de la première enfance. Mem. Acad. Roy. Med. Belg., 6: 1–87.Google Scholar
Radu, H., Seceleanu, A., Migea, C., Török, Z., Bordeianu, L., Seceleanu, S. (1966). La pseudomyopathie neurogène de Kugelberg-Welander. Acta Neurol. Belg., 66: 409–427.Google Scholar
Sanna, G. (1964). A proposito dell'atrofia muscolare progressiva neurogena familiare a localizzazione prossimale. (Studio clinico, elettromiografico ed istologico). Acta Neurol. (Napoli), 19: 350–364.Google Scholar
Spira, R. (1967). A family with Kugelberg-Welander disease; electromyographic findings in sub-clinical cases. Confin. Neurol., 28: 423–431.Google Scholar
Thieffry, S., Arthuis, M., Bargeton, E. (1955). Quarante cas de maladie de Werdnig-Hoffmann avec onze examens anatomiques. Rev. Neurol. (Paris), 93: 621–644.Google Scholar
Werdnig, G. (1891). Zwei frühinfantile hereditäre Falle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundelage. Arch. Psychiat. Nervenkr., 22: 437–491.Google Scholar
Wohlfart, G., Fex, J., Eliasson, S. (1955). Hereditary proximal spinal muscular atrophy — a clinical entity simulating progressive muscular dystrophy. Acta Psychiat. Neurol. Scand., 30: 395–406.Google Scholar