Skip to main content

Abstract

Myotonic dystrophy was recognized to represent a specific disease by the German internist Hans Steinert1 and the British neurologists Fred Eustace Batten and H.P. Gibb2 in 1909. However, the characteristic combination of myotonia and distal muscle weakness was first described by the American physician C.L. Dana in 1888.3

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Steinert H. Myopathologische Beiträge. Über das klinische und anatomische Bild des Muskelschwundes der Myo-toniker. Dtsch Z Nervenheilk 1909;37:58–104.

    Google Scholar 

  2. Batten FE, Gibb HP. Two cases of myotonia atrophica, showing a peculiar distribution of muscular atrophy. Proc Roy Soc Med, Neurol Section 1909;2:32–33.

    CAS  Google Scholar 

  3. Dana CL. An atypical case of Thomsen’s disease (myotonia congenita). Med Ree 1888;33:433–435.

    Google Scholar 

  4. Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545–546.

    Article  PubMed  CAS  Google Scholar 

  5. Brook JD, Shaw DJ, Meredith AL, et al. Localizing the gene for myotonic dystrophy on chromosome 19. J Med Genet 1985;22:396.

    Google Scholar 

  6. Höweler CJ, Busch HFM, Geraedts JPM, et al. Anticipation in myotonic dystrophy: fact or fiction? Brain 1989; 112: 779–797.

    Article  PubMed  Google Scholar 

  7. von Rohden L. Ultraschalluntersuchungen an der quergestreiften Muskulatur bei neuromuskulären Erkrankungen Postdoctoral thesis. Magdeburg: Germany, 1989:16–17.

    Google Scholar 

  8. Lamminen A, Jääskelainen J, Rapola J, et al. High-frequency ultrasonography of skeletal muscle in children with neuromuscular disease. J Ultrasound Med 1988;7: 505–509.

    PubMed  CAS  Google Scholar 

  9. Schedel H, Reimers CD, Nägele M, et al. Imaging techniques in myotonic dystrophy. A comparative study of ultrasound, computed tomography and magnetic resonance imaging of skeletal muscles. Eur J Radiol 1992;15: 230–238.

    Article  PubMed  CAS  Google Scholar 

  10. Kaschka WP, Druschky K-F, Rott H-D. Myotonic muscular dystrophy: structural changes visualized by ultrasound (letter). J Neurol 1987;234:122–123.

    Article  PubMed  CAS  Google Scholar 

  11. Bulcke JAL, Baert AL Clinical and radiological aspects of myopathies. CR scanning, EMG, radioisotopes. Berlin: Springer, 1982;126–135.

    Google Scholar 

  12. Miyashita I, Yamamoto H, Koga H, et al. Computed tomography of skeletal muscles in myotonic muscular dystrophy. Clin Neurol 1990;30:24–28.

    CAS  Google Scholar 

  13. Nordal HJ, Dietrichson P, Eldevik P, et al. Fat infiltration, atrophy and hypertrophy of skeletal muscles demonstrated by X-ray computed tomography in neurological patients. Acta Neurol Scand 1988;7:115–122.

    Article  Google Scholar 

  14. Rodiek S-O CT, MR-Tomographieund MR-Spektroskopie bei neuromuskulären Erkrankungen Stuttgart: Enke, 1987:29–30.

    Google Scholar 

  15. Gellerich I, Müller D, Koch RD. Computertomogra-phische Untersuchungen bei myotonen Dystrophien. Psychiatr Neurol Med Psychol 1986;38:378–383.

    CAS  Google Scholar 

  16. Jiddane M, Gastaut JL, Pellissier J, et al. CT of primary muscle diseases. Am J Neuroradiol 1983;4:773–776.

    PubMed  CAS  Google Scholar 

  17. Rickards D, Isherwood I, Hutchinson R, et al. Computed tomography in dystrophia myotonica. Neuroradiology 1982;24:27–31.

    CAS  Google Scholar 

  18. Serratrice G, Salamon G, Jiddane M, et al. Résultats du scanner X musculaire dans 145 cas de maladies neuro-musculaires. Rev Neurol 1985;141:404–412.

    PubMed  CAS  Google Scholar 

  19. Wussow W, Mielke U. Computertomographie der Unterschenkel bei Dystrophia myotonica. Verh der Deutschen Gesellschaft für Neurologie 1985;3:833–836.

    Google Scholar 

  20. Schedel H, Reimers CD, Vogl T, et al. Kernspintomographische Darstellung des Muskeloedema bei neuromuskulären Erkrankungen. Radiol Diagn 1992;33:29–32.

    Google Scholar 

  21. Damian MS, Bachmann G, Herrmann D, et al. Magnetic resonance imaging of the muscle and brain in myotonic dystrophy. J Neurol 1993;240:8–12.

    Article  PubMed  CAS  Google Scholar 

  22. Rüdel R, Lehmann-Horn F, Ricker K. The nondystrophic myotonias In: Engel AG, Franzini-Armstrong C, eds. Myology. New York: McGraw-Hill Inc., 1994;1291.

    Google Scholar 

  23. Pongratz DE, Reimers CD, Hahn D, Nägele M, Müller-Felber W, eds. Atlas der Muskelkrankheiten. Wien: Urban und Schwarzenberg, 1990.

    Google Scholar 

  24. Fisher AQ, Carpenter DW, Hartlage PL, Caroll JE, Stephens S. Muscle imaging in neuromuscular disease using computerized real time sonography. Muscle Nerve 1988;11:270.

    Article  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1996 Springer-Verlag New York, Inc.

About this chapter

Cite this chapter

Reimers, C.D., Vogl, T.J. (1996). Myotonic Disorders. In: Fleckenstein, J.L., Crues, J.V., Reimers, C.D. (eds) Muscle Imaging in Health and Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-2314-6_17

Download citation

  • DOI: https://doi.org/10.1007/978-1-4612-2314-6_17

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4612-7498-8

  • Online ISBN: 978-1-4612-2314-6

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics