Transitional forms between Myotonia congenita Dystrophia myotonica and Paramyotonia congenita

  • J. E. Caughey


Following the early accounts of myotonia Erb (1886) whom we honour today, published a monograph which created general interest in the subject, and in the papers that followed, there were reports of some atypical cases in which muscle atrophy was associated with myotonia. It is true to say, that ever since there has been wide variance of opinion as to the relationship of myotonia congenita and dystrophia myotonica. Clinically they appear to be distinct disease entities, differing in many essential details, yet having in common, myotonia, and a common mode of inheritance. Batten and Gibb (1909) maintained they were distinct disease entities and in the same year Steinert (1909) stated they belonged in the same disease category. Adie and Greenfield (1935) supported the “theory of distinct diseases” whereas Guillain et al. (1932) and later Maas and Paterson (1939) were the great protagonists of the “one disease theory”. Thomasen (1948) likewise supported this latter theory.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Adie, W. J., and J. G. Greenfield: Dystrophia Myotonica. Brain 46, 73 (1923).CrossRefGoogle Scholar
  2. Aitken, R. S., E. N. Allott, L. I. M. Castleden, and M. Walker: Observations on a case of Familial Periodic Paralysis. Clin. Sci. 3, 47 (1937).Google Scholar
  3. Batten, F. E., and H. P. Gibb: Myotonia Atrophica. Brain 32, 414 (1909).CrossRefGoogle Scholar
  4. Becker, P. E.: Zur Frage der Heterogenic der erblichen Myotonien. Nervenarzt 28, 455 (1957).PubMedGoogle Scholar
  5. Bergonzi, M., e E. Azzi: Sulla Distrophie Miotonica etc. 38, 632 (1949), Rass. Studi psichiat.Google Scholar
  6. Boeters, H.: Über Myotonie. Klinische und Erbpathologische Beiträge. Leipzig 1935.Google Scholar
  7. Caughey, J. E.: Relationship of Dystrophia Myotonica and Myotonia congenita. Neurology (Minneap.) 8, 469 (1958).Google Scholar
  8. Caughey, J. E., and J. Barclay: Dystrophia Myotonica and the occurence of congenital physical defects in affected families. Aust. Ann. Med. 3, 165 (1954).PubMedGoogle Scholar
  9. Caughey, J. E., and J. Brown: Dystrophia Myotonica — An endocrine study. Quart. J. Med. 19, 303 (1950).Google Scholar
  10. Caughey, J. E., and Myrianthopolus: Dystrophia Myotonica and related disorders. Springfield Ill.: Thomas 1963.Google Scholar
  11. Caughey, J. E., and G. Saucier: Endocrine aspects of Dystrophia Myotonica. Brain vol. 85 Part. IV 711–732. 1962.PubMedCrossRefGoogle Scholar
  12. Conn, J. W., L. H. Louis, S. S. Fryans, D. H. P. Streeter, and R. L. Johnson: Lancet 1957 I, 302.Google Scholar
  13. Deleage, F.: Étude Clinique sur la Maladie Thomsen. Paris 1890.Google Scholar
  14. Dodge, P. R., I. Gamstorp, R. K. Byers, and P. Russell: Pediatrics, part I, 35, No I (1965).Google Scholar
  15. Drager, G. A., F. J. Hamill, and G. M. Shy: Paramyotonia Congenita. Arch. Neurol. Psychiat. (Chic.) 80, I (1958).Google Scholar
  16. Eberle, P.: Dystrophia myotonica associated with a supernumerary chromosome. N.Z. Med. J. 63, 325 (1964).PubMedGoogle Scholar
  17. Erb, W.: Die Thomsensche Krankheit. Leipzig 1886.Google Scholar
  18. Eulenburg, A.: Neurol. Centralb. 5, 265 (1886).Google Scholar
  19. Fitzgerald, P. H., and J. E. Caughey: Chromosome and sex chromosome studies in cases of Dystrophia Myotonica. N.Z. Med. J. 61, 410 (1962).PubMedGoogle Scholar
  20. Gamstorp, I.: Adynania Episodica Hereditaria. Acta paediat. (Uppsala) 45, Suppl. 1, 126 (1956).Google Scholar
  21. Guillam, G., I. Bertrand et L. Rouques: Les Lesions de la Myotome Atrophique. Ann. Méd. 31, 180 (1932).Google Scholar
  22. Jackson, J. F.: Chromosomes in Dystrophia Myotonica. Lancet 1965, 1, 1225.PubMedCrossRefGoogle Scholar
  23. Jones, R. V., R. R. McSwiney, and R. V. Brook: Lancet 1959, 1, 177.PubMedCrossRefGoogle Scholar
  24. de Jong, J. G. Y.: Dystrophia Myotonica, Paramyotonia and Myotonia Congenita. Acta genet. (Basel) 7, 310 (1957).Google Scholar
  25. Maas, O., and A. S. Paterson: The identity of Myotonia Congenita, Dystrophia Myotonica and Paramyotonia Congenita. Brain 62, 198 (1939).CrossRefGoogle Scholar
  26. Myrianthopoulos, N.: Pers. Communication. 1965.Google Scholar
  27. Penrose, L. S.: The Problem of Anticipation in Pedigrees of Dystrophia Myotonica. Ann. Eugen. (Lond.) 14, 125 (1948).CrossRefGoogle Scholar
  28. Rouques, L., P. Guilly, J. Pautrat, and J. Lapresle: Special intermediary type between Thomsen’s disease and the Myopathies. Rev. neurol. 79, 481 (1947).Google Scholar
  29. Saper, J., J. Teter, Z. Janczewski, and J. Nadworny: Endocrinologie resemblance of Myotonia Congenita and Myotonic Dystrophy (Pol.) Neurol. Neurochir. Psychiat. pol. 10, 2,777 (1947).Google Scholar
  30. Seale, J. R.: Myotonia. R.A.M.C.J. 10, 2, 247 (1956).Google Scholar
  31. Steinert, H.: Myopathologische Beiträge. Dtsch. Z. Nervenheilk. 37, 58 (1909).CrossRefGoogle Scholar
  32. Thomasen, E.: Myotonia. Kopenhagen 1948.Google Scholar
  33. Tyler, F. H., F. E. Stephens, F. N. Gunn, and G. T. Perkoff: Studies in disorders of muscle. J. clin. Invest. 30, 492 (1951).PubMedCrossRefGoogle Scholar
  34. Van der Meulen, J. P., G. J. Gilbert, and C. A. Kane: Familial hyperkalaemie paralysis with myotonia. New Engl. J. Med. 264, 1 (1961).CrossRefGoogle Scholar
  35. Walton, J. N., and F. J. Nattrass: On the classification natural history and treatment of the myopathies. Brain 77, 169 (1954).PubMedCrossRefGoogle Scholar
  36. White, H. H., and C. M. Poser: Report of a case in transition between myotonia congenita and dystrophia myotonica. J. Kans. med. Soc. 58, 293.Google Scholar
  37. Williamson, D. A. J.: Two families with Myotonia. Proc. roy. Soc. Med. 43, 238 (1950).Google Scholar
  38. Wohlfart, G.: Dystrophia myotonica and myotonia congenita J. Neurol. path. exp. Neurol. 10, 109 (1950).Google Scholar

Copyright information

© Springer-Verlag, Berlin · Heidelberg 1966

Authors and Affiliations

  • J. E. Caughey

There are no affiliations available

Personalised recommendations