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Wohlfart Kugelberg Welander Syndrome

Published online by Cambridge University Press:  18 September 2015

R.T. Ross ,
Charles A. Simpson  and
Salma Styles
R.T. Ross*
Affiliation:
Section of Neurology, Winnipeg General Hospital and the University of Manitoba, Winnipeg, Canada
Charles A. Simpson
Affiliation:
Departments of Neurology, The Royal Jubilee Hospital, Victoria, British Columbia
Salma Styles
Affiliation:
Departments of Pathology, The Royal Jubilee Hospital, Victoria, British Columbia
*
132-404 Graham Avenue, Winnipeg R3C 0L6 Canada
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Summary

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A family is described with two brothers suffering from the Wohlfart Kugelberg Welander syndrome, and seven unaffected siblings. Another brother died in infancy from “a spinal disorder”. Both affected males developed symptoms in the third decade with weakness of the lower limb girdle, followed by the upper limb girdle. Both showed fasciculations, hyporeflexia, and purely lower motor neuron findings. EMG showed evidence of denervation and muscle biopsy showed neurogenic atrophy. Terminal motor latencies were slightly prolonged and one showed an elevated serum aldolase while both had elevated C.P.K.’s. Laboratory studies on some of the normal siblings were normal. The younger brother who has been seen over two years seems to have become slightly stronger.

Dermatoglyphics and chromosomal analysis have been carried out on the patients and some of the normal siblings. All were normal except for the younger affected brother who has persistently showed a high percentage of abnormal cells, though the basic karyotype was normal, and abnormal dermatoglyphics. This is the only case we have found in the literature with chromosome abnormalities. This pedigree suggests a recessive inheritance, possibly x linked.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 1 , Issue 2 , May 1974 , pp. 130 - 138
Copyright
Copyright © Canadian Neurological Sciences Federation 1974

References

Almog, C.Tal, E.(1968). A family with Kugelberg Welander syndrome. Hereditary proximal spinal muscular atrophy — some additional features. Confina Neurologica 30: 313–24.CrossRefGoogle Scholar
Amick, L.D.Smith, H.L.Johnson, W.W. (1966). An unusual spectrum of progressive spinal muscular atrophy. Acta Neurologica Scandánavia 42: 275–95.CrossRefGoogle ScholarPubMed
Armstrong, R.M.Fogelson, M.H.Silberberg, D.H. (1965). Familial proximal spinal muscular atrophy. Study of a large pedigree. Transactions of the American Neurological Association. 90: 207–10.Google ScholarPubMed
Armstrong, R.M.Fogelson, M.H. and Silberberg, D.H. (1966). Familial proximal spinal muscular atrophy. Archives of Neurology 14: 208–212.CrossRefGoogle ScholarPubMed
Bloom, A.D. (1972). Induced Chromosomal Aberrations in Man: Advances in Human Genetics by Harris, H. and Hirschhorn, K.Plenum Press. New York-London.Google Scholar
Buchtal, F.Olsen, P.Z. (1970). Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain 93: 15–24.CrossRefGoogle Scholar
Engel, K.W.Hogenhuis, L. (1965). Discussion of paper by Armstrong et al. Transactions of the American Neurological Association.Google Scholar
Espinosa, R.E.Okihiro, M.M.Mulder, D.W.Sayre, G.P. (1962). Hereditary amyotrophic lateral sclerosis. Neurology (Minneap.) 12: 1–7.CrossRefGoogle Scholar
Farmer, T.W.Allen, J.N. (1969). Hereditary proximal amyotrophic lateral sclerosis. Transactions of the American Neurological Association 94: 140–4.Google ScholarPubMed
Fenichel, G.M.Emery, E.W.Hunt, P. (1967). Neurogenic atrophy simulating facioscapular humeral dystrophy; a dominant form. Archives of Neurology (Chicago) 17: 257–60.Google Scholar
Fleck, H.Zurrow, H.B. (1967). Familial amyotrophic lateral sclerosis. New York Journal of Medicine 67: 2368–73.Google ScholarPubMed
Gardner, J.H.Feldmahn, A. (1966). Hereditary adult motor neurone disease. Report of 154 year geneology with eighteen cases. Transactions of the American Neurological Association. 91: 239–41.Google Scholar
Gardner-Medwin, D.Walton, J.N. (1967). Benign spinal muscular atrophy arising in childhood and adolescence. Journal of Neurological Science. 5: 121–58.CrossRefGoogle ScholarPubMed
Garg, B.K.Srivastava, J.R. (1968). Familial juvenile amyotrophic lateral sclerosis. Indian Pediatrics 5: 119–21.Google Scholar
Garvie, J.M.Woolf, A.L. (1966). Kugelberg Welander Syndrome. British Medical Journal 5501: 1458–61.CrossRefGoogle Scholar
Goto, I.Peters, H.A.Reese, H.H. (1967). Creatine phosphokinase in neuromuscular disease. Patients and families. Archives of Neurology (Chicago) 16: 529–35.Google Scholar
Green, J.B. (1960). Familial amyotrophic lateral sclerosis occurring in four generations. Neurology (Minneap.). 10: 960–2.CrossRefGoogle Scholar
Gross, M. (1966). Proximal spinal muscular atrophy, Journal of Neurology, Neurosurgery, and Psychiatry 29: 29–34.CrossRefGoogle ScholarPubMed
Hecht, F.Kiler, R.D.Rigas, D.A.Dahnke, G.S.Case, M.P.Tisdale, V. and Miller, R.W. (1966). Leukemia and lymphocytes in ataxia telangiectasia, Lancet 2; 1193.CrossRefGoogle Scholar
Hirano, A.Kurland, L.T.Sayre, G.P. (1967). Familial amyotrophic lateral sclerosis. A subgroup characterized by posterior and spino-cerebellar tract involvement and hyaline inclusions in the anterior horn cells. Archives of Neurology (Chicago). 16; 232–43.CrossRefGoogle Scholar
Holt, S.B. (1968). The Genetics of Dermal Ridges, Charles C, Thomas, Publisher.Google Scholar
Kennedy, W.R.Alter, M.Sung, J.H. (1968). Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex linked recessive trait. Neurology (Minneap.) 18; 671–80.CrossRefGoogle ScholarPubMed
Kugelberg, E.Welander, L. (1952). Familial neurogenic (Spinal) muscular atrophy simulating ordinary proximal dystrophy. Twelfth Congress of Scandinavian Neurologists, Oslo.Google Scholar
Kugelberg, E.Welander, L. (1956). Heredofamilial proximal spinal muscular atrophy simulating muscular dystrophy. Archives of Neurology and Psychiatry (Chicago) 75: 500–509.Google Scholar
Kurland, L.T.Mulder, D.W. (1955). Epidemiologic investigations of amyotrophic lateral sclerosis. Familial aggregations indicative of dominant inheritance. Part I. Neurology (Minneap.) 5 (3) 182–196.CrossRefGoogle Scholar
Kurland, L.T. and Mulder, D.W. (1955). Epidemiologic investigations of amyotrophic lateral sclerosis.Familial aggregations indicative of dominant inheritance. Part II. Neurology (Minneap.) 5 (4) 249–268.CrossRefGoogle Scholar
Kurland, L.T. (1957). Epidemiologic investigations of amyotrophic lateral sclerosis. III. A genetic interpretation of incidence and geographic distribution. Proceedings of the Mayo Clinic 32: (17), 449–62.Google Scholar
Magee, K.R.Dejong, R.N. (1960). Neurogenic muscular atrophy simulating muscular dystrophy. Archives of Neurology (Chicago). 2: 677–82.Google Scholar
Mastaglia, F.L.Walton, J.N. (1971). Histological and histochemical changes in skeletal muscle from cases of chronic juvenile and early adult spinal muscular atrophy. (The Kugelberg Welander Syndrome). Journal of Neurological Science 12: (17), 15–44.CrossRefGoogle ScholarPubMed
Meadows, J.C.Marsden, C.D.Harriman, D.G. (1969). Chronic spinal muscular atrophy in adults. 1. The Kugelberg-Welander syndrome. Journal of Neurological Sciences 9: 527–50.CrossRefGoogle ScholarPubMed
Metcalf, C.W.Hirano, A. (1971). Amyotrophic lateral sclerosis. Clinico-pathological studies of a family. Archives of Neurology 24: 518–23.Google ScholarPubMed
Mckusick, VICTOR A.Mendelian Inheritance in Man; Catalogs of Autosomal Recessive and X-linked Phenotypes: 3rd Edition, Baltimore, The John Hopkins Press, (1971).Google Scholar
Mcleod, J.G.Williams, I. (1971). Spinal muscular atrophy. Minnesota Medicine 54: 475–61.Google ScholarPubMed
Moorehead, P.S.Nowell, P.C.Wellman, W.J.Battips, D.M. AND Hungerford, D.A. (1960). Chromosome preparations of leucocutes cultured from human peripheral blood. Experimental Cell Research 20, 613.CrossRefGoogle Scholar
Panitch, H.S.Franklin, G.M. (1972). Elevation of serum creatine phosphokinase in amyotrophic lateral sclerosis. Neurology 22: 964–966.CrossRefGoogle ScholarPubMed
Pearce, J.Harriman, D.G. (1966). Chronic spinal muscular atrophy. Journal of Neurology, Neurosurgery & Psychiatry 29: 509–20.CrossRefGoogle Scholar
Perry, I.S.Netsky, M.G. (1958). Familial amyotrophic lateral sclerosis—report of two cases. North Carolina Medical Journal 19: (6) 229–34.Google ScholarPubMed
Poser, C.M.Johnson, M.Bunch, L.D. (1965). Familial amyotrophic lateral sclerosis. Diseases of the Nervous System 26: 697–702.Google ScholarPubMed
Power, J.M.Horoupian, D.S.Schaumberg, H.H. (1974). Wetherbee Ail. Canadian Journal of Neurological Sciences 1: 139–140.CrossRefGoogle Scholar
Pratt, R.T.C. (1962). Genetic aspects of motor neurone disease. Proceedings of the Royal Society of Medicine 55: 1020–1.Google Scholar
Quarfordt, S.H.Devivo, D.C.Engel, W.K.Levy, R.I. and Fredrickson, D.S. (1970). Familial Adult-Onset Proximal Spinal Muscular Atrophy. Archives of Neurology 22: 541–549.CrossRefGoogle ScholarPubMed
RESEARCH GROUP ON NEUROMUSCULAR DISEASES (1968) – Classification of the Neuromuscular Disorders. Journal of the Neurological Sciences 6: 165–177.CrossRefGoogle Scholar
Roe, P.F. (1964). Familial motor neurone disease. Journal of Neurology, Neurology Neurosurgery & Psychiatry. 27: 140–3.CrossRefGoogle ScholarPubMed
Roth, R.G.Graziani, L.J.Terry, R.D.Scheinberg, L.D. (1965). Muscle fine structure in the Kugelberg Welander syndrome (chronic spinal muscular atrophy). Journal of Neuropathology and Experimental Neurology 24: 444–54.CrossRefGoogle Scholar
Sercl, M.Kovarik, J. (1963). On the familial incidence of amyotrophic lateral sclerosis. Acta Neurologica Scandinavia 39: 169–76.CrossRefGoogle ScholarPubMed
Smith, J.B.Patel, A. (1965). The Wohlfart Kugelberg Welander disease. Review of the literature and report of a case. Neurology (Minneap.) 15: 469–473.CrossRefGoogle ScholarPubMed
Spira, R. (1966). A family with Kugelberg Welander disease, electromyographic findings in sub-clinical cases. Confina Neurologica 28: 423–31.CrossRefGoogle Scholar
Takahashi, K.Nakamura, H.Okada, E. (1972). Hereditary Amyotrophic Lateral sclerosis. Archives of Neurology 27: 292–299.CrossRefGoogle ScholarPubMed
Thomson, A.F.Alvarez, F.A. (1969). Hereditary amyotrophic lateral sclerosis. Journal of Neurological Sciences 8: 101–10.CrossRefGoogle ScholarPubMed
Torres, J.Iriarte, L.L. (1957). Amyotrophic lateral sclerosis among Guamanians in California. California Medicine 86: (6) 385–8.Google ScholarPubMed
Tsukagoshi, H.Nakaniski, T.Kondo, K. (1965). Hereditary proximal neurogenic muscular atrophy in adult. Archives of Neurology (Chicago). 12: 597–603.Google Scholar
Tsukagoshi, H.Sugita, H.Furukawa, T. (1966). Kugelberg Welander syndrome with dominant inheritance. Archives of Neurology (Chicago). 14: 378–81.Google Scholar
Tsukagoshi, H.Shoji, H.Furukawa, T. (1970). Proximal neurogenic muscular atrophy in adolescence and adulthood with x-linked recessive inheritance. Neurology 20: 1188–1193.Google Scholar
Welander, L. (1955). quoted by Wohlfart, G.Fex, J.Eliasson, S.Google Scholar
Welch, K.M.A.Goldberg, D.M. (1972). Serum creatine Phosphokinase in Motor Neuron Disease. Neurology 22: 697–701.CrossRefGoogle ScholarPubMed
Winsor, E.J.Murphy, E.G.Thompson, M.W.And reed, T.E. (1971). Genetics of childhood spinal muscular atrophy. Journal of Medical Genetics, 8: 143–148.CrossRefGoogle ScholarPubMed
Wohlfart, G. (1942). Zwei falle von dystrophia musculorum progressiva mit fibrallaren zuckussgen und atypischen muskelbefund. Deutsche Zeitschrift fur Neruenheilkunde 153: 189–93.CrossRefGoogle Scholar
Wohlfart, G.Fex, J.Eliasson, S. (1955). Hereditary proximal spinal muscular atrophy — a clinical entity simulating muscular dystrophy. Acta Psychiatrica Scandinavia 30: 395–406.Google ScholarPubMed
Woods, B.T.Schaumberg, H.H. (1972). Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. Journal of Neurological Sciences 17: 149–166.CrossRefGoogle ScholarPubMed
Zellweger, H.Schneider, H.Schuldt, D.R. (1969). A new genetic variant of spinal muscular atrophy. Neurology. (Minneap.) 19: 865–9.CrossRefGoogle ScholarPubMed
Zellweger, H.Simpson, J.Mccormick, W.F.Ionasescu, V. (1972). Spinal muscular atrophy with autosomal dominant inheritance. Neurology 22: 957–963.CrossRefGoogle ScholarPubMed