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Kugelberg-Welander Disease: With Particular Reference to Sex-Influenced Manifestations

Kugelberg-Welander Disease: With Particular Reference to Sex-Influenced Manifestations Abstract SINCE the original descriptions of Wohlfart et al1 and Kugelberg and Welander2 there have been a number of reports of familial proximal neurogenic muscular atrophy. The principal findings of Kugelberg-Welander disease (K-W disease) consist of: (1) onset of muscle weakness in childhood or adolescence, (2) proximal muscle atrophy simulating muscular dystrophy, (3) very slow progression, (4) transmission as an autosomal recessive or dominant trait, and (5) neurogenic nature confirmed by electromyography or muscle biopsy. We present here two families, in which both male and female siblings are affected with this disease. We emphasize the remarkable difference in the clinical findings and course between affected male and female siblings. These findings may provide some suggestions in the nosological study of this disorder. Report of Cases Family I.— The proband (B) was a 19-year old unmarried woman. She was one of fraternal twins and her parents were cousins (Fig References 1. Wohlfart, G.; Fex, J.; and Eliasson, S.: Hereditary Proximal Spinal Muscular Atrophy: A Clinical Entity Simulating Progressive Muscular Dystrophy , Acta Psychiat Neurol Scand 30:395-406, 1955. 2. Kugelberg, E., and Welander, L.: Heredofamilial Muscular Atrophy Simulating Muscular Dystrophy , Arch Neurol Psychiat 75:500-509, 1956.Crossref 3. Swinyard, C.A.; Deaver, G.G.; and Greenspan, L.: Gradients of Functional Ability of Importance in Rehabilitation of Patients With Progressive Muscular and Neuromuscular Diseases , Arch Phys Med 38:574-579, 1957. 4. Tsukagoshi, H., et al: Hereditary Proximal Neurogenic Muscular Atrophy in Adult , Arch Neurol 12:597-603, 1965.Crossref 5. Heuyer; Dauphin; and Labovici: Maladie de Werdnig-Hoffmann chez deux soeurs , Rev Neurol 78:608-610, 1946. 6. Brandt, S.: Werdnig-Hoffmann Infantile Progressive Muscular Atrophy , Munksgaard, Copenhagen, 1950. 7. Zeidler, V.: Course in Infantile Progressive Spinal Muscle Atrophy of the Werding-Hoffmannand Oppenheim Type , Z Kinderheilk 81:315-329, 1958.Crossref 8. Greenfield, J.G.; Coruman, T.; and Shy, G.M.: The Prognostic Value of the Muscle Biopsy in the "Floppy Infant," Brain 81:461-484, 1958.Crossref 9. Furtado, D.: L'évolution de l'amyotrophie spinale infantile , Rev Neurol 98:742-749, 1958. 10. Martin-Sneessens, L.: Formes à évolution trés prolongée de l'amyotrophie spinale de Werdnig-Hoffmann (leur place dans le cadre des maladies abiotrophiques) , J Génét Hum 11:251-269, 1962. 11. Becker, P.E.: Atrophia Musculorum Spinalis Pseudomyopathica: Hereditäre Neurogene Proximale Amyotrophie von Kugelberg und Welander , Z Menschl Vererb Konstitutionslehre 37:193-220, 1964. 12. Mares, A., et al: Atrophie musculaire hérédofamiliale à transmission dominante , Rev Roum Neurol 1:295-307, 1964. 13. Furukawa. T., et al: Clinical and Genetic Considerations on Kugelberg-Welander's Disease , Clin Neurol 6:148-155, 1966. 14. Dubowitz, V.: Infantile Muscular Atrophy: A Prospective Study With Particular Reference to a Slowly Progressive Variety , Brain 87:707-718, 1964.Crossref 15. Spira, R.: Neurogenic, Familial, Girdle-Type Muscular Atrophy , Confin Neurol 23:245-255, 1963.Crossref 16. Schmid, P.C.: Beitrag zum Krankheitsbild der Infantilen Progressiven Spinalen Muskelatrophie nach Werdnig-Hoffmann , Z Kinderheilk 81:13-25, 1958.Crossref 17. Magee, K.R., and DeJong, R.N.: Neurogenic Muscular Atrophy Simulating Muscular Dystrophy , Arch Neurol 2:677-682, 1960.Crossref 18. Tsukagoshi, H., et al: Kugelberg-Welander Syndrome With Dominant Inheritance , Arch Neurol 14:378-381, 1966.Crossref 19. Armstrong, R.M.; Fogelson, M.H.; and Silberberg, D.M.: Familial Proximal Spinal Muscular Atrophy , Arch Neurol 14:208-212, 1966.Crossref 20. Chung, C.S., and Morton, N.E.: Discrimination of Genetics in Muscular Dystrophy , Amer J Hum Genet 11:339-359, 1959. 21. Morton, N.E.; Chung, C.S.; and Peters, H.A.: " Genetics of Muscular Dystrophy ," in Bourne, G.H., and Golarz, N. (eds.): Muscular Dystrophy in Man and Animals , S. Karger, Basel, 1963. 22. Caughey, J.E., and Myrianthopoulos, N.C.: Dystrophia Myotonica and Related Disorders , Springfield, Ill: Charles C Thomas, Publisher, 1963. 23. Boeters, H.: Über Myotonie: Klinische und Erbpathologische Beiträge , Thieme, Leipzig, 1935. 24. Maas, O., and Paterson, A.S.: Genetic and Familial Aspects of Dystrophia Myotonica , Brain 66:55-86, 1943.Crossref 25. Thomasen, E.: Myotonia: Thomsen's Disease (Myotonia Congenita), Paramyotonia, and Dystrophia Myotonica , Universitetsforlaget i Aarhus, 1948. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Kugelberg-Welander Disease: With Particular Reference to Sex-Influenced Manifestations

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References (29)

Publisher
American Medical Association
Copyright
Copyright © 1968 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1968.00480020042004
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Abstract

Abstract SINCE the original descriptions of Wohlfart et al1 and Kugelberg and Welander2 there have been a number of reports of familial proximal neurogenic muscular atrophy. The principal findings of Kugelberg-Welander disease (K-W disease) consist of: (1) onset of muscle weakness in childhood or adolescence, (2) proximal muscle atrophy simulating muscular dystrophy, (3) very slow progression, (4) transmission as an autosomal recessive or dominant trait, and (5) neurogenic nature confirmed by electromyography or muscle biopsy. We present here two families, in which both male and female siblings are affected with this disease. We emphasize the remarkable difference in the clinical findings and course between affected male and female siblings. These findings may provide some suggestions in the nosological study of this disorder. Report of Cases Family I.— The proband (B) was a 19-year old unmarried woman. She was one of fraternal twins and her parents were cousins (Fig References 1. Wohlfart, G.; Fex, J.; and Eliasson, S.: Hereditary Proximal Spinal Muscular Atrophy: A Clinical Entity Simulating Progressive Muscular Dystrophy , Acta Psychiat Neurol Scand 30:395-406, 1955. 2. Kugelberg, E., and Welander, L.: Heredofamilial Muscular Atrophy Simulating Muscular Dystrophy , Arch Neurol Psychiat 75:500-509, 1956.Crossref 3. Swinyard, C.A.; Deaver, G.G.; and Greenspan, L.: Gradients of Functional Ability of Importance in Rehabilitation of Patients With Progressive Muscular and Neuromuscular Diseases , Arch Phys Med 38:574-579, 1957. 4. Tsukagoshi, H., et al: Hereditary Proximal Neurogenic Muscular Atrophy in Adult , Arch Neurol 12:597-603, 1965.Crossref 5. Heuyer; Dauphin; and Labovici: Maladie de Werdnig-Hoffmann chez deux soeurs , Rev Neurol 78:608-610, 1946. 6. Brandt, S.: Werdnig-Hoffmann Infantile Progressive Muscular Atrophy , Munksgaard, Copenhagen, 1950. 7. Zeidler, V.: Course in Infantile Progressive Spinal Muscle Atrophy of the Werding-Hoffmannand Oppenheim Type , Z Kinderheilk 81:315-329, 1958.Crossref 8. Greenfield, J.G.; Coruman, T.; and Shy, G.M.: The Prognostic Value of the Muscle Biopsy in the "Floppy Infant," Brain 81:461-484, 1958.Crossref 9. Furtado, D.: L'évolution de l'amyotrophie spinale infantile , Rev Neurol 98:742-749, 1958. 10. Martin-Sneessens, L.: Formes à évolution trés prolongée de l'amyotrophie spinale de Werdnig-Hoffmann (leur place dans le cadre des maladies abiotrophiques) , J Génét Hum 11:251-269, 1962. 11. Becker, P.E.: Atrophia Musculorum Spinalis Pseudomyopathica: Hereditäre Neurogene Proximale Amyotrophie von Kugelberg und Welander , Z Menschl Vererb Konstitutionslehre 37:193-220, 1964. 12. Mares, A., et al: Atrophie musculaire hérédofamiliale à transmission dominante , Rev Roum Neurol 1:295-307, 1964. 13. Furukawa. T., et al: Clinical and Genetic Considerations on Kugelberg-Welander's Disease , Clin Neurol 6:148-155, 1966. 14. Dubowitz, V.: Infantile Muscular Atrophy: A Prospective Study With Particular Reference to a Slowly Progressive Variety , Brain 87:707-718, 1964.Crossref 15. Spira, R.: Neurogenic, Familial, Girdle-Type Muscular Atrophy , Confin Neurol 23:245-255, 1963.Crossref 16. Schmid, P.C.: Beitrag zum Krankheitsbild der Infantilen Progressiven Spinalen Muskelatrophie nach Werdnig-Hoffmann , Z Kinderheilk 81:13-25, 1958.Crossref 17. Magee, K.R., and DeJong, R.N.: Neurogenic Muscular Atrophy Simulating Muscular Dystrophy , Arch Neurol 2:677-682, 1960.Crossref 18. Tsukagoshi, H., et al: Kugelberg-Welander Syndrome With Dominant Inheritance , Arch Neurol 14:378-381, 1966.Crossref 19. Armstrong, R.M.; Fogelson, M.H.; and Silberberg, D.M.: Familial Proximal Spinal Muscular Atrophy , Arch Neurol 14:208-212, 1966.Crossref 20. Chung, C.S., and Morton, N.E.: Discrimination of Genetics in Muscular Dystrophy , Amer J Hum Genet 11:339-359, 1959. 21. Morton, N.E.; Chung, C.S.; and Peters, H.A.: " Genetics of Muscular Dystrophy ," in Bourne, G.H., and Golarz, N. (eds.): Muscular Dystrophy in Man and Animals , S. Karger, Basel, 1963. 22. Caughey, J.E., and Myrianthopoulos, N.C.: Dystrophia Myotonica and Related Disorders , Springfield, Ill: Charles C Thomas, Publisher, 1963. 23. Boeters, H.: Über Myotonie: Klinische und Erbpathologische Beiträge , Thieme, Leipzig, 1935. 24. Maas, O., and Paterson, A.S.: Genetic and Familial Aspects of Dystrophia Myotonica , Brain 66:55-86, 1943.Crossref 25. Thomasen, E.: Myotonia: Thomsen's Disease (Myotonia Congenita), Paramyotonia, and Dystrophia Myotonica , Universitetsforlaget i Aarhus, 1948.

Journal

Archives of Neurology – American Medical Association

Published: Aug 1, 1968

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