Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 71-79 , June 2006

Myotonic Dystrophies Type 1 and 2: A Summary on Current Aspects

  • Ulrike Schara, MD

      Affiliations

    • Department of Neuropediatrics, City Hospital Neuss, Neuss, Germany.
    • Corresponding Author InformationAddress reprint requests to Benedikt G.H. Schoser, MD, Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1a, 80336 Munich, Germany.
  • ,
  • Benedikt G.H. Schoser, MD

      Affiliations

    • Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany.

References 

  1. Steinert H. Myopathologische Beiträge 1. Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker. Dtsch Zeitschr Nervenheilk. 1909;37:58–104
  2. Batten FE, Gibb HP. Myotonia atrophica. Brain. 1909;32:187–205
  3. Harper PS. Major problems in neurology, in Myotonic Dystrophy. ed 3. Philadelphia, PA: Saunders; 2001;
  4. Harper PS, Monckton DG. Myotonic dystrophy. In:  Engel AG,  Franzini-Armstrong C editor. Myology. ed 3. New York, NY: McGraw Hill Professional; 2004;p. 1039–1076
  5. Curschmann H. Über familiäre atrophische Myotonie. Dtsch Zeitschr Nervenheilk. 1912;45:161–202
  6. Curschmann H. Myotonische Dystrophie (atrophische myotonie). In:  Bumke O,  Förster O editor. Handbuch der Neurologie. Berlin: Springer Verlag; 1936;p. 465–485
  7. Fleischer B. Über myotonische Dystrophie mit Katarakt. Graefes Arch Klin Ophthalmol. 1918;96:91–133
  8. Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology. 1994;44:1448–1452
  9. Thornton CA, Griggs RC, Moxley RT. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol. 1994;35:269–272
  10. Udd B, Krahe R, Wallgren-Pettersson C, Falck B, et al. Proximal myotonic dystrophy—A family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?. Neuromuscul Disord. 1997;7:217–228
  11. Day JW, Roelofs R, Leroy B, et al. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord. 1999;9:19–27
  12. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature. 1992;355:548–551
  13. Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 1992;355:547–548
  14. 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
  15. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science. 1992;255:1253–1255
  16. Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord. 2005;15:5–16
  17. Ranum LP, Rasmussen PF, Benzow KA, et al. Genetic mapping of a second myotonic dystrophy locus. Nat Genet. 1998;19:196–198
  18. Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293:864–867
  19. Bachinski LL, Udd B, Meola G, et al. Confirmation of DM2 (CCTG)n expansion mutation in PROMM/PDM patients of different European origins: A single shared haplotype indicates ancestral founder effects. Am J Hum Genet. 2003;73:835–848
  20. Liquori CL, Ikeda Y, Weatherspoon M, et al. Myotonic dystrophy type 2: Human founder haplotype and evolutionary conservation of the repeat tract. Am J Hum Genet. 2003;73:849–862
  21. Schoser BGH, Kress W, Walter MC, et al. Homozygosity for CCTG mutation in myotonic dystrophy type 2. Brain. 2004;127:1868–1877
  22. Day JW, Ricker K, Jacobson JF, et al. Myotonic dystrophy type 2. Neurology. 2003;60:657–664
  23. Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: A review. Muscle Nerve. 2005;32:1–18
  24. Ho TH, Bundman D, Armstrong DL, Cooper TA. Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Am J Hum Genet. 2005;14:1539–1547
  25. Schara U, Mortier W. Neuromuskuläre Erkrankungen (NME): Teil 2: Muskeldystrophien (MD). Nervenarzt. 2004;75:219–239
  26. Vanier TM. Dystrophia myotonica in childhood. Br Med J. 1960;2:1284–1288
  27. Rutherford MA, Heckmatt JZ, Dubowitz V. Congenital myotonic dystrophy: Respiratory function at birth determines survival. Arch Dis Child. 1989;64:191–195
  28. Rais-Bahrami K, MacDonald MG, Eng GD, et al. Persistent pulmonary hypertension in newborn infants with congenital myotonic dystrophy. J Pediatr. 1994;124:634–635
  29. Joseph JT, Richards CS, Anthony DC, et al. Congenital myotonic dystrophy: Pathology and somatic mosaicism. Neurology. 1997;49:1457–1460
  30. Bassez G, Lazarus A, Desguerre I, et al. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology. 2004;63:1939–1941
  31. De-Smulders C. Long-term clinical and genetic studies in myotonic dystrophy (thesis). The Netherlands: University of Maastricht; 2000;
  32. Le Ber I, Martinez M, Campion D, et al. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: Phenotype and suggestive mapping of the DM2 locus to chromosome 15q21-24. Brain. 2004;127:1979–1992
  33. Rudnik-Schöneborn S, Schneider-Gold C, Raabe U, et al. Pregnancy and delivery in myotonic dystrophy type 2: A retrospective study of 42 patients. Neurology. 2006;66:579–580
  34. Meola G, Moxley RT. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol. 2005;251:1173–1182
  35. Schoser BGH, Ricker K, Schneider-Gold C, et al. Sudden death in myotonic dystrophy type 2. Neurology. 2004;63:966–967
  36. Mankodi A, Lin X, Blaxall BC, et al. Nuclear RNA foci in heart in myotonic dystrophy. Circ Res. 2005;97:1152–1155
  37. Maurage CA, Udd B, Ruchoux MM, et al. Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. Neurology. 2005;65:1636–1638
  38. Schoser BGH, Schneider-Gold C, Reilich P, et al. Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve. 2004;29:275–281
  39. van Engelen BG, Eymard B, Wilcox D. 123rd ENMC international workshop: Management and Therapy in Myotonic Dystrophy, 6-8 February 2004, Naarden, The Netherlands. Neuromuscul Disord. 2005;15:389–394
  40. Kurihara T. New classification and treatment for myotonic disorders. Intern Med. 2005;44:1027–1032
  41. van der Kooi EL, Lindeman E, Riphagen I. Strength training and aerobic exercise training for muscle disease (review). Cochrane Database Syst Rev. 2005;1:CD003907
  42. Udd B, Meola G, Krahe R, et al. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord. 2006;16:403–413

 Supported in part by the German Network on Muscular Dystrophies (MD-NET, 01GM0302) funded by the German Ministry of Education and Research (BMBF, Bonn, Germany).

PII: S1071-9091(06)00092-1

doi: 10.1016/j.spen.2006.06.002

Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 71-79 , June 2006