Myotonic Dystrophy at a Glance

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Myotonic Dystrophy At A Glance

Myotonic dystrophy is a rare, multi-systemic, inherited disease that affects an estimated 1 in 2,100 people, or over 3.6 million individuals across the world.1
 

Millions of people are living with DM globally, yet millions of people do not know they have the disease and are in need of care.1
 

Myotonic dystrophy is the most common form of adult muscular dystrophy and considered the most variable of all known conditions.2
 

Myotonic dystrophy is commonly referred to as DM, an abbreviation of the Latin name used by doctors and researchers worldwide: dystrophia myotonica. Other names for DM include myotonic muscular dystrophy (MMD), Steinert’s Disease for DM1, and Proximal myotonic myopathy (PROMM) for DM2.3-31
 

Myotonic dystrophy symptoms usually become more severe with each generation, yet there is currently no cure and there are no approved treatments.74-89
 

Mutations prevent genes from carrying out their functions properly, which can impact multiple body systems. Myotonic dystrophy type 1 is caused by a mutation in the DMPK gene, while Myotonic dystrophy type 2 is caused by a mutation in the CNBP gene.3-31
 

Myotonic dystrophy is inherited - people living with myotonic dystrophy have a 50% chance of passing on the mutated gene to their children.8
 

People living with myotonic dystrophy experience varied and complex symptoms, from skeletal muscle problems91-112, to heart113-126, breathing127-150, digestive151-166, hormonal198-219, speech and swallowing246, diabetic247, immune220-237, excessive daytime sleepiness248, early cataracts and vision challenges238-245, and cognitive difficulties167-197.
 

Myotonic dystrophy doesn’t always look the same. The different body systems affected, the severity of symptoms, and the age of onset of those symptoms vary greatly between individuals, even in the same family.249-250
 

Delays in diagnosing myotonic dystrophy are common. Despite the availability of simple genetic tests, a lack of familiarity with the disease on the part of healthcare providers can allow misdiagnoses to persist for decades.251
 

Over 35 biopharmaceutical companies are leading promising research which may result in new treatments for myotonic dystrophy, and, one day, a cure.251

 

Medical References & Citations for Myotonic Dystrophy

Disease Mechanism

Prevalence

  1. Nicholas E. Johnson, Russell J. Butterfield, Katie Mayne, Tara Newcomb,Carina Imburgia, Diane Dunn, Brett Duval, Marcia L. Feldkamp, Robert B. Weiss. Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program, Neurology Feb 2021, 96 (7) e1045-e1053, 2021.
  2. National Organization for Rare Disorders. (2017). Myotonic dystrophy. Retrieved May 5, 2021, from https://rarediseases.org/rare-diseases/dystrophy-myotonic/

 

Causes of DM

  1. Cho, D.H.; Tapscott, S.J. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta Feb 1772:195-204, 2007.
  2. Ranum L.P.; Cooper T.A. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29:259-77, 2006.
  3. Machuca-Tzili L.; Brook J.D.; Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve Jul 32:1-18, 2005.
  4. Harper P.S.; van Engelen B.G.; Eymard B.; Rogers M.; Wilcox D. (2004) 99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands. Oxford University Press, Oxford UK.
  5. Day J.W.; Ranum L.P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord Jan 15:5-16, 2005.
  6. Meola G. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol. 2013 Dec;32(3):154-65. PMID: 24803843; PMCID: PMC4006279.
  7. Ranum L.P.W.; Day J.W. Myotonic Dystrophy: RNA Pathogenesis Comes into Focus. American Journal of Human Genetics 74: 793-804, 2004.
  8. Harper P.S. (2001) Myotonic Dystrophy, 3rd ed. W.B. Saunders, London.
  9. Korade-Mirnics Z.; Babitzke P.; Hoffman E. Myotonic dystrophy: molecular windows on a complex etiology. Nucleic Acids Res Mar 15 26:1363-8, 1998.
  10. Roses AD (1997) Myotonic dystrophy. In: Rosenberg RN, Prusiner SB, Dimauro S, Barchi RL (eds) The Molecular and Genetic Basis of Neurological Disease, 2 ed. Butterworth-Heinemann, Stoneham, MA.
  11. Harris S.; Moncrieff C.; Johnson K. Myotonic dystrophy: will the real gene please step forward! Hum Mol Genet 5 Spec 1417-23, 1996.
  12. Pizzuti A.; Friedman D.L.; Caskey C.T. The myotonic dystrophy gene. Arch. Neurol 50: 1173-9, 1993.
  13. Brook J.D.; McCurrach M.E.; Harley H.G.; Buckler A.J.; Church D.; Aburatani H.; Hunter K.; Stanton V.P.; Thirion J.-P.; Hudson T.; Sohn R.; Zemelman B.; Snell R.G.; Rundle S.A.; Crow S.; Davies J.; Shelbourne P.; Buxton J.; Jones C.; Juvonen V.; Johnson K.; Harper P.S.; Shaw D.J.; Housman D.E. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member. Cell 68: 799-808, 1992.
  14. Buxton J.; Shelbourne P.; Davies J.; Jones C.; Van Tongeren T.; Aslanidis C.; de Jong P.; Jansen G.; Anvret M.; Riley B.; Williamson R.; Johnson K. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355: 547-8, 1992.
  15. Fu Y.-H.; Pizzuti A.; Fenwick R.G., Jr.; King J.; Rajnarayan S.; Dunne P.W.; Dubel J.; Nasser G.A.; Ashizawa T.; de Jong P.; Wieringa B.; Korneluk R.; Perryman M.B.; Epstein H.F.; Caskey C.T. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-8, 1992.
  16. Mahadevan M.; Tsilfidis C.; Sabourin L.; Shutler G.; Amemiya C.; Jansen G.; Neville C.; Narang M.; Barcelo J.; O’Hoy K.; Leblond S.; Earle-Macdonald J.; de Jong P.J.; Wieringa B.; Korneluk R.G. Myotonic dystrophy mutation: an unstable CTG repeat in the 3-prime untranslated region of the gene. Science 255: 1253-5, 1992.

Causes of DM2

  1. Ranum L.P.; Cooper T.A. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29:259-77, 2006.
  2. Udd B.; Meola G.; Krahe R.; Thornton C.; Ranum L.P.; Bassez G.; Kress W.; Schoser B.; Moxley R. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord Jun 16:403-13, 2006.
  3. Day J.W.; Ranum L.P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord Jan 15:5-16, 2005.
  4. Machuca-Tzili L.; Brook J.D.; Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve Jul 32:1-18, 2005.
  5. Meola G.; Moxley R.T. 3rd. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol Oct 251:1173-82, 2004.
  6. Ranum L.P.W., and Day J.W. Myotonic Dystrophy: RNA Pathogenesis Comes into Focus. American Journal of Human Genetics 74: 793-804, 2004.
  7. Day J.W.; Ricker K.; Jacobsen J.F.; Rasmussen L.J.; Dick K.A.; Kress W.; Schneider C.; Koch M.C.; Beilman G.J.; Harrison A.R.; Dalton J.C.; Ranum L.P.; Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology Feb 25 60:657-64, 2003.
  8. Finsterer J. Myotonic dystrophy type 2. Eur J Neurol Sep 9:441-7, 2002.
  9. Harper P.S. (2001) Myotonic Dystrophy, 3rd ed. W.B. Saunders, London.
  10. Liquori C.L.; Ricker K.; Moseley M.L.; Jacobsen J.F.; Kress W.; Naylor S.L.; Day J.W.; Ranum L.P. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-7, 2001.
  11. Larkin K, Fardaei M. Myotonic dystrophy--a multigene disorder. Brain Res Bull Oct-Nov 1 56:389-95, 2001.
  12. Day J.W.; Roelofs R.; Leroy B.; Pech I.; Benzow K.; Ranum L.P. Clinical and genetic characteristics of a five- generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord 9:19-27, 1999.
  13. Udd B.; Krahe R.; Wallgren-Pettersson C.; Falck B.; Kalimo H. Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 7:217-28, 1997.
  14. Meola G.; Sansone V.; Radice S.; Skradski S.; Ptacek L. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 6:143-50, 1996.
  15. Thornton, C.A.; Griggs, R.C.; Moxley, R.T.III. Myotonic dystrophy with no trinucleotide repeat expansion. Ann. Neurol 35: 269-72, 1994.

RNA Pathogenesis

  1. Wang G.-S.; Kearney D.L.; De Biasi M.; Taffet G.; Cooper T.A. Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J. Clin. Invest 117: 2802-11, 2007.
  2. Wheeler T.M.; Lueck J.D.; Swanson M.S.; Dirksen R.T.; Thornton C.A. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 117:3952-7, 2007.
  3. Smith K.P.; Byron M.; Johnson C.; Xing Y.; Lawrence J.B. Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains. J Cell Biol Sep 10 178:951- 64, 2007.
  4. Yuan Y.; Compton S.A.; Sobczak K.; Stenberg M.G.; Thornton C.A.;, Griffith J.D.; Swanson M.S. Muscleblind- like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucleic Acids Res 35:5474-86, 2007.
  5. Paul S.; Dansithong W.; Kim D.; Rossi J.; Webster N.J.; Comai L.; Reddy S. Interaction of muscleblind, CUG- BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. EMBO J Sep 20 25:4271-83, 2006. 
  6. Timchenko, L. Reversal of fortune. Nature Genet 38: 976-7, 2006.
  7. Kanadia R.N.; Shin J.; Yuan Y.; Beattie S.G.; Wheeler T.M.; Thornton C.A.; Swanson M.S. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci USA Aug 1 103:11748-53, 2006.
  8. Mahadevan M.S.; Yadava R.S.; Yu Q.; Balijepalli S.; Frenzel-McCardell C.D.; Bourne T.D.; Phillips L.H. Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nature Genet 38: 1066-70, 2006.
  9. Machuca-Tzili L.; Thorpe H.; Robinson T.E.; Sewry C.; Brook J.D. Flies deficient in muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. Hum. Genet 120: 487-99, 2006.
  10. Dansithong W.; Paul S.; Comai L.; Reddy S. MBNL1 is the Primary Determinant of Focus Formation and Aberrant Insulin Receptor Splicing in DM1. JBC 280: 5773-80, 2005.
  11. Jiang H.; Mankodi A.; Swanson M.S.; Moxley R.T.; Thornton C.A. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum. Molec. Genet 13: 3079-88, 2004.
  12. Kanadia R.N.; Johnstone K.A.; Mankodi A.; Lungu C.; Thornton C.A.; Esson D.; Timmers A.M.; Hauswirth W.W.; Swanson M.S. A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-80, 2003.
  13. Fardaei M.; Rogers M.T.; Thorpe H.M.; Larkin K.; Hamshere M.G.; Harper P.S.; Brook J.D. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet Apr 1 11:805-14, 2002.
  14. Mankodi A.; Urbinati C.R.; Yuan Q.-P.; Moxley R.T.; Sansone V.; Krym M.; Henderson D.; Schalling M.; Swanson M.S.; Thornton C.A. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum. Molec. Genet 10: 2165-70, 2001.
  15. Ladd A.N.; Charlet-B.N.; Cooper T.A. The CELF family of RNA binding proteins is implicated in cell- specific and developmentally regulated alternative splicing. Molec. Cell. Biol 21: 1285-96, 2001.
  16. Miller J.W.; Urbinati C.R.; Teng-umnuay P.; Stenberg M G.; Byrne B.J.; Thornton C.A.; Swanson M.S. Recruitment of human muscleblind proteins to CUG(n) expansions associated with myotonic dystrophy. EMBO J 19: 4439-48, 2000.
  17. Mankodi A.; Logigian E.; Callahan L.; McClain C.; White R.; Henderson D.; Krym M.; Thornton C.A. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289:1769-72, 2000.
  18. Timchenko, L. T. Myotonic dystrophy: the role of RNA CUG triplet repeats. Am. J. Hum. Genet 64: 360-4, 1999.
  19. Philips A.V.; Timchenko L.T.; Cooper T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280: 737-41, 1998.
  20. Davis B.M.; McCurrach M.E.; Taneja K.L.; Singer R.H.; Housman D.E. Expansion of CUG trinucleotide repeat in the 3’ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proceedings of the National Academy of Sciences 94: 7388-93, 1997.
  21. Roberts R.; Timchenko N.A.; Miller J.W.; Reddy S.; Caskey C.T.; Swanson M.S.; Timchenko L.T. Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proc. Nat. Acad. Sci 94: 13221-6, 1997.
  22. Timchenko L.T.; Miller J.W.; Timchenko N.A.; DeVore D.R.; Datar K.V.; Lin L.; Roberts R.; Caskey C.T.; Swanson M.S. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids. Res 24: 4407-14, 1996.
  23. Wang J.; Pegoraro E.; Menegazzo E.; Gennarelli M.; Hoop R.C.; Angelini C.; Hoffman E.P. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum. Molec. Genet 4: 599-606, 1995.
  24. Fu Y-H.; Friedman D.L.; Richards S.; Pearlman J.A.; Gibbs R.A.; Pizzuti A.; Ashizawa T.; Perryman M.B.; Scarlato G.; Fenwick R.G.Jr.; Caskey C.T. Decreased expression of myotonin protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 260: 235-8, 1993.
  25. Hull K.L. Jr; Roses A.D. Stoichiometry of sodium and potassium transport in erythrocytes from patients with myotonic muscular dystrophy. J Physiol Jan 254:169-81, 1976.

Somatic Mosaicism

  1. Foiry L, Dong L, Savouret C, Hubert L, Riele HT, Junien C, Gourdon G. Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet 119: 520-6, 2006.
  2. Fortune MT, Vassilopoulos C, Coolbaugh MI, Siciliano MJ, Monckton DG. Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum Mol Genet 9: 439-45, 2000.
  3. Gomes-Pereira M, Fortune MT, Ingram L, McAbney JP, Monckton DG. Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum Mol Genet 13: 1815-25, 2004.
  4. Martorell L, Martinez JM, Carey N, Johnson K, Baiget M. Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet 32: 593-596, 1995.
  5. Martorell L, Monckton DG, Gamez J, Baiget M. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur J Hum Genet 8: 423-30, 2000.
  6. Monckton DG, Wong LJC, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 4: 1-8, 1995.
  7. van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, Groenen PJ, Wieringa B. Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet 11: 191-8, 2002.
  8. Savouret C.; Brisson E.; Essers J.;, Kanaar R.; Pastink A.; te Riele H.; Junien C.; Gourdon G. CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J May 1 22:2264-73, 2003.
  9. Khajavi M.; Tari A. M.; Patel N. B.; Tsuji K.; Siwak D.R.; Meistrich M.L.; Terry N.H.A.; Ashizawa T. ‘Mitotic drive’ of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Hum. Molec. Genet 10: 855-63, 2001.
  10. Gomes-Pereira M.; Fortune M.T.; Monckton D.G. Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. Hum. Molec. Genet 10: 845-54, 2001.
  11. Martorell L.; Monckton D.G.; Gamez J.; Johnson, K.J.; Gich I.; Lopez de Munain A.; Baiget M. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum. Molec. Genet 7: 307-12, 1998.
  12. Lia A.-S.; Seznec H.; Hofmann-Radvanyi H.; Radvanyi F.; Duros C.; Saquet C.; Blanche M.; Junien C.; Gourdon G. Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. Hum. Molec. Genet 7: 1285-91, 1998.
  13. Wong L.J.; Ashizawa T.; Monckton D.G.; Caskey C.T.; Richards C.S. Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet Jan 56:114-22, 1995.
  14. López de Munain A.; Cobo A.M.; Huguet E.; Marti Massó J.F.; Johnson K.; Baiget M. CTG trinucleotide repeat variability in identical twins with myotonic dystrophy. Ann Neurol Mar 35:374-5, 1994.
  15. Thornton CA, Johnson K, Moxley RT 3rd. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol Jan 35:104-7, 1994.
  16. Lavedan C.; Hofmann-Radvanyi H.; Shelbourne P.; Rabes J.-P.; Duros C.; Savoy D.; Dehaupas I.; Luce S.; Johnson K.; Junien C. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am. J. Hum. Genet 52: 875-83, 1993.
  17. Anvret M.; Ahlberg G.; Grandell U.; Hedberg B.; Johnson K.; Edstrom L. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Molec. Genet 2: 1397-400, 1993.
  18. Ashizawa T.; Dubel J.R.; Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology Dec 43:2674-8, 1993.

 

Anticipation

  1. Yang J.; Freudenreich C.H. Haploinsufficiency of yeast FEN1 causes instability of expanded CAG/CTG tracts in a length-dependent manner. Gene May 15 393:110-5, 2007.
  2. Dean N.L.; Loredo-Osti J.C.; Fujiwara T.M.; Morgan K.; Tan S.L.; Naumova A.K.; Ao A. Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos. Eur J Hum Genet 14:299-306, 2006.
  3. Savouret C, Garcia-C, Megret J, te Riele H, Junien C, Gourdon G. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol Cell Biol 2004 Jan 24:629-37, 2004.
  4. De Temmerman N.; Sermon K.; Seneca S.; De Rycke M.; Hilven P.; Lissens W.; Van Steirteghem A.; Liebaers I. Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos. Am J Hum Genet Aug 75:325-9, 2004.
  5. Martorell L.; Monckton D.G.; Sanchez A.; Lopez de Munain A.; Baiget M. Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 56: 328-35, 2001.
  6. Seznec H.; Lia-Baldini A.-S.; Duros, C.; Fouquet C.; Lacroix C.; Hofmann-Radvanyi H.; Junien C.; Gourdon G. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum. Molec. Genet 9: 1185-94, 2000.
  7. Cohen H.; Sears D.D.; Zenvirth D.; Hieter P.; Simchen G. Increased instability of human CTG repeat tracts on yeast artificial chromosomes during gametogenesis. Mol Cell Biol Jun 19:4153-8, 1999.
  8. Simmons Z.; Thornton C.A.; Seltzer W.K.; Richards C.S. Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy. Neurology 50: 1501-4, 1998.
  9. Magee, A.C.; Hughes, A.E. Segregation distortion in myotonic dystrophy. J. Med. Genet 35:1045-6, 1998.
  10. Gourdon G.; Radvanyi F.; Lia A.-S.; Duros C.; Blanche M.; Abitbol M.; Junien C.; Hofmann- Radvanyi H. Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nature Genet 15: 190-2, 1997.
  11. Leeflang, E.P.; McPeek, M.S.; Arnheim, N. Analysis of meiotic segregation, using singlesperm typing: meiotic drive at the myotonic dystrophy locus. Am. J. Hum. Genet 59: 896-904, 1996.
  12. Jansen G.; Willems P.; Coerwinkel M.; Nillesen W.; Smeets H.; Vits L.; Höweler C.; Brunner H.; Wieringa B. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum. Genet Apr 54:575-85, 1994.
  13. Abeliovich D, Lerer I, Pashut-Lavon I, Shmueli E, Raas-Rothschild A, Frydman M. Negative expansion of the myotonic dystrophy unstable sequence. Am J Hum Genet Jun 52:1175-81, 1993.
  14. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet May 52:875-83, 1993.
  15. Sutherland G.R.; Richards R.I. Anticipation legitimized: unstable DNA to the rescue. Am J Hum Genet Jul 51:7-9, 1992.
  16. Harper P.S.; Harley H.G.; Reardon W.; Shaw D.J. Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet 1992 Jul 51:10-6. Erratum in: Am J Hum Genet Oct 51:942, 1992.

 

Multisystemic Features

Skeletal Muscle

  1. Benders A.A., Timmermans J.A., Oosterhof A., Ter Laak H.J., van Kuppevelt T.H., Wevers R.A., Veerkamp J.H. Deficiency of Na+/K(+)-ATPase and sarcoplasmic reticulum Ca(2+)-ATPase in skeletal muscle and cultured muscle cells of myotonic dystrophy patients. Biochem J Jul 1 293:269-74, 1993.
  2. Benders A.A.G.M., Groenen P.J.T.A., Oerlmans F.T.J.J., Veerkamp J.H., Wieringa B. Myotonic dystrophy protein kinase is involved in the modulation of the Ca(2+) homeostasis in skeletal muscle cells. J. Clin. Invest 100: 1440-7, 1997.
  3. Casanova G., Jerusalem F. Myopathology of myotonic dystrophy: a morphometric study. Acta Neuropath (Berlin) 45: 213-40, 1979.
  4. de Swart B.J., van Engelen B.G., van de Kerkhof J.P., Maassen B.A. Myotonia and flaccid dysarthria in patients with adult onset myotonic dystrophy. J Neurol Neurosurg Psychiatry 75:1480-2, 2004.
  5. Drachman D. B., Fambrough D. M. Are muscle fibers denervated in myotonic dystrophy? Arch. Neurol 33: 485-8, 1976.
  6. Dubowitz Z. (1995) Muscle Disorders in Childhood, 2 ed. W.B. Saunders Co, London.
  7. Kalkman J.S., Schillings M.L., van der Werf S.P., Padberg G.W., Zwarts M.J., van Engelen B.G., Bleijenberg G. Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry 76:1406-9, 2005.
  8. Kurihara T. New Classification and Treatment for Myotonic Disorders. Internal Medicine 44: 1027-32, 2005.
  9. Logigian E.L., Ciafaloni E., Quinn L.C., Dilek N., Pandya S., Moxley R.T. 3rd, Thornton C.A. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy. Muscle Nerve Apr 35:479-85, 2007.
  10. Logigian E.L., Blood C.L., Dilek N.,Martens W.B., Moxley R.T.4th, Wiegner A.W., Thornton C.A., Moxley R.T. 3rd. Quantitative analysis of the “warm-up” phenomenon in myotonic dystrophy type 1. Muscle Nerve 32:35-42, 2005.
  11. Logigian E.L., Moxley R.T., IV, Blood C.L., Barbieri C.A., Martens W.B., Wiegner A.W., Thornton C.A., Moxley R.T., 3rd. Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1. Neurology 62: 1081-9, 2004.
  12. Lovell M.E., Morcuende J.A. Neuromuscular disease as the cause of late clubfoot relapses: report of 4 cases. Iowa Orthop J 27:82-4, 2007.
  13. Lueck J.D., Mankodi A., Swanson M.S., Thornton C.A., Dirksen R.T. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J Gen Physiol Jan 129:79-94, 2007.
  14. Mankodi A., Takahashi M.P., Jiang H., Beck C.L., Bowers W.J., Moxley R.T., Cannon S.C., Thornton C.A. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10:35-44, 2002.
  15. Mounsey J.P., Xu P., John J.E. 3rd, Horne L.T., Gilbert J., Roses A.D., Moorman J.R. Modulation of skeletal muscle sodium channels by human myotonin protein kinase. J Clin Invest May 95:2379-84. 1995.
  16. Orngreen M. C., Olsen D. B., Vissing J. Aerobic training in patients with myotonic dystrophy type 1. Ann. Neurol 57: 754-7, 2005.
  17. Reddy S., Smith D. B., Rich M. M., Leferovich J. M., Reilly P., Davis B. M., Tran K., Rayburn H., Bronson R., Cros D., Balice-Gordon R. J., Housman D. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet 13: 325-35, 1996.
  18. Streib E.W., Sun S.F. Distribution of electrical myotonia in myotonic muscular dystrophy. Ann Neurol 14:80-2, 1983.
  19. Timchenko N.A., Iakova P., Cai Z.J., Smith J.R., Timchenko L.T. Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol Oct 21:6927-38, 2001.
  20. Trip J., Drost G., van Engelen B.G., Faber C.G. (2006) Drug treatment for myotonia. Cochrane Database Syst Rev CD004762.
  21. van der Kooi E.L., Lindeman E., Riphagen I. (2005) Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev CD003907.
  22. Whittaker R.G., Ferenczi E., Hilton-Jones D. Myotonic dystrophy: practical issues relating to assessment of strength. J Neurol Neurosurg Psychiatry 77:1282-3, 2006.

 

Cardiovascular

  1. Bassez G., Lazarus A., Desguerre I., Varin J., Laforet P., Becane H.M., Meune C., Arne-Bes M.C., Ounnoughene Z., Radvanyi H., Eymard B., Duboc D. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology 63:1939-41, 2004.
  2. Bhakta D., Lowe M.R., Groh W.J. Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J 147:224-7, 2004.
  3. Duboc D., Eymard B., et al. Cardiac management of myotonic dystrophy. Myotonic dystrophy: present management, future therapy P. S. Harper, B. M. G. Van Engelen, B. Eymard and D. E. Wilcox. New York, Oxford University Press 85-93, 2004.
  4. Gregoratos G., Abrams J., Epstein A.E., Freedman R.A., Hayes D.L., Hlatky M.A., Kerber R.E., Naccarelli G.V., Schoenfeld M.H., Silka M.J., Winters S.L., Gibbons R.J., Antman E.M., Alpert J.S., Gregoratos G., Hiratzka L.F., Faxon D.P., Jacobs A.K., Fuster V., Smith S.C. Jr., American College of Cardiology/American Heart Association Task Force on Practice Guidelines/North American Society for Pacing and Electrophysiology Committee to Update the 1998 Pacemaker Guidelines. ACC/AHA/NASPE 2002 Guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article. A report of the American College of Cardiology/American Heart Association task force on practice guidelines. Circulation 106:2145-61, 2002.
  5. Harper P.S. Myotonic Dystrophy. 3rd ed, W.B. Saunders, London 2001.
  6. Klompe L., Lance M., Woerd D., van der Scohy T., Bogers A.J.J.C. Anaesthesiological and ventilatory precautions during cardiac surgery in Steinert’s disease: a case report. J Card Surg 22:74-5, 2007.
  7. Kilic T., Vural A., et al. Cardiac resynchronization therapy in a case of myotonic dystrophy (Steinert’s disease) and dilated cardiomyopathy. Pacing Clin Electrophysiol 30(7): 916-20, 2007.
  8. Lazarus A., Varin J., et al. Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation 99(8): 1041-6. 1999.
  9. Lazarus A., Varin J., Babuty D., Anselme F., Coste J., Duboc D. Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: A multicenter diagnostic pacemaker study. J Am Coll Cardiol 40:1645-52, 2002.
  10. Phillips M.F., Harper P.S. Cardiac disease in myotonic dystrophy. Cardiovasc Res 33:13-22, 1997.
  11. Schoser B.G., Ricker K., Schneider-Gold C., Hengstenberg C., Durre J., Bultmann B., Kress W., Day J.W., Ranum L.P. Sudden cardiac death in myotonic dystrophy type 2. Neurology 63:2402-4, 2004.
  12. Sovari A.A., Bodine C.K., et al. Cardiovascular manifestations of myotonic dystrophy-1. Cardiol Rev 15(4): 191-4, 2007.
  13. Vignaux O., Lazarus A., et al. Right ventricular MR abnormalities in myotonic dystrophy and relationship with intracardiac electrophysiologic test findings: initial results. Radiology 224(1): 231-5, 2002.

 

Respiratory System

  1. Souayah N.; Tick Chong P.S.; Dreyer M.; Cros D.; Schmahmann J.D. Myotonic dystrophy type 1 presenting with ventilatory failure. J Clin Neuromuscul Dis Sep 9:252-5, 2007.
  2. Klompe L.; Lance M.; van der Woerd D.; Scohy T.; Bogers A.J. Anaesthesiological and ventilatory precautions during cardiac surgery in Steinert’s disease: a case report. J Card Surg 22:74-5, 2007.
  3. Laub M.; Berg S.; Midgren B. Symptoms, clinical and physiological findings motivating home mechanical ventilation in patients with neuromuscular diseases. J Rehabil Med Jul 38:250-4, 2006.
  4. Fodil R, Lofaso F, Annane D, Falaise L, Lejaille M, Raphaël JC, Isabey D, Louis B. Upper airway calibre and impedance in patients with Steinert’s myotonic dystrophy. Respir Physiol Neurobiol Nov 30 144:99-107, 2004.
  5. Nishi M.; Itoh H.; Tsubokawa T.; Taniguchi T.; Yamamoto K. Effective doses of vecuronium in a patient with myotonic dystrophy. Anaesthesia 59:1216-8, 2004.
  6. Rosenbaum H.K.; Miller J.D. Malignant hyperthermia and myotonic disorders. Anesthesiol Clin North America 20, 385-426, 2002.
  7. Aquilina A.; Groves J. A combined technique utilising regional anaesthesia and target-controlled sedation in a patient with myotonic dystrophy. Anaesthesia 57:385-6, 2002.
  8. Nugent A.M.; Smith I.E.; Shneerson J.M. Domiciliary-assisted ventilation in patients with myotonic dystrophy. Chest Feb 121:459-64, 2002.
  9. Shneerson J.M.; Simonds A.K. Noninvasive ventilation for chest wall and neuromuscular disorders. Eur Respir J Aug 20:480-7, 2002.
  10. Ahmadian J.L.; Heller S.L.; Nishida T.; Altman K.W. Myotonic dystrophy type 1 (DM1) presenting with laryngeal stridor and vocal fold paresis. Muscle Nerve Apr 25:616-8, 2002.
  11. Nitz J.; Burke B. A study of the facilitation of respiration in myotonic dystrophy. Physiother Res Int 7:228- 38, 2002 
  12. Imison A.R. Anaesthesia and myotonia--an Australian experience. Anaesth Intensive Care 29:34-7, 2001.
  13. Calabrese P.; Gryspeert N.; Auriant I.; Fromageot C.; Raphaël J.C.; Lofaso F.; Benchetrit G. Postural breathing pattern changes in patients with myotonic dystrophy. Respir Physiol Aug 122:1-13, 2000.
  14. Ugalde V.; Breslin E.H.; Walsh S.A.; Bonekat H.W.; Abresch R.T.; Carter G.T. Pursed lips breathing improves ventilation in myotonic muscular dystrophy. Arch Phys Med Rehabil Apr 81:472-8, 2000.
  15. Keller C.; Reynolds A.; Lee B.; Garcia-Prats J. Congenital myotonic dystrophy requiring prolonged endotracheal and noninvasive assisted ventilation: not a uniformly fatal condition. Pediatrics 101: 704-6, 1998.
  16. Mathieu J.; Allard P.; Gobeil G.; Girard M.; De Braekeleer M.; Begin P. Anesthetic and surgical complications in 219 cases of myotonic dystrophy. Neurology 49:1646-50, 1997.
  17. Moxley R.T. 3rd. Carrell-Krusen Symposium Invited Lecture-1997. Myotonic disorders in childhood: diagnosis and treatment. J Child Neurol 12:116-29, 1997.
  18. Mathieu, J, Allard, P, Gobeil, G, Girard M.; De Braekeleer M.; Begin P. Anesthetic and surgical complications in 219 cases of myotonic dystrophy. Neurology 49:1646-50, 1997.
  19. Robin N.H.; Curtis M.T.; Mulla W.; Reynolds C.A.; Anday E.; Rorke L.B.; Zackai E.H. Non-immune hydrops fetalis associated with impaired fetal movement: a case report and review. Am. J. Med. Genet 53: 251- 4, 1994.
  20. Lehmann-Horn F.; Iaizzo P.A. Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? Br J Anaesth 1990; 65:692-7, 1990.
  21. Aldridge L.M. Anaesthetic problems in myotonic dystrophy. A case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients. Br J Anaesth 57:1119, 1985.
  22. Mudge B.J.; Taylor P.B.; Vanderspek A.F. Perioperative hazards in myotonic dystrophy. Anaesthesia 35:492- 5, 1980.
  23. Moulds R.F.; Denborough M.A. Letter: Myopathies and malignant hyperpyrexia. Br Med J 3:520, 1974.
  24. Saidman L.J.; Havard E.S.; Eger E.I. 2nd. Hyperthermia during anesthesia. JAMA 190:1029-32, 1964.
  25. Bellini M., Alduini P., Costa F., Tosetti C., Pasquali L., Pucciani F., Tornar A., Mammini C., Siciliano G., Maltinti G., Marchi S. Gastric emptying in myotonic dystrophic patients. Dig Liv Dis 34: 484-488, 2002.

 

Gastrointestinal System

  1. Bellini M., Biagi S., Stasi C., Costa F., Mumolo M.G., Ricchiuti A., Marchi S. Gastrointestinal manifestations in myotonic muscular dystrophy. World J Gastroenterol Mar 28 12:1821-8, 2006.
  2. Brunner H.G., Hamel B.C.J., Rieu P., Howeler C.J., Peters F.T.M. Intestinal pseudoobstruction in myotonic dystrophy. J. Med. Genet 29: 791-3, 1992.
  3. Costantini M., Zaninotto G., Anselmino M., Marcon M., Iurilli V., Boccu C., Feltrin G.P., Angelini C., Ancona E. Esophageal motor function in patients with myotonic dystrophy. Dig Dis Sci 41 : 2032-8, 1996.
  4. Garrett J.M., DuBose T.D. Jr., Jackson J.E., Norman J.R. Esophageal and pulmonary disturbances in myotonia dystrophica. Arch Intern Med 123: 26-32, 1969.
  5. Horowitz M., Maddox A., Maddern G.J., Wishart J., Collins P.J., Shearman D.J. Gastric and esophageal emptying in dystrophia myotonica. Effect of metoclopramide. Gastroenterology 92: 570-577, 1987.
  6. Kerr T.P., Robb S.A., Clayden G.S. Lower gastrointestinal tract disturbance in congenital myotonic dystrophy Eur J Pediatr Aug 161:468-9, 2002.
  7. Lecointe-Besancon I., Leroy F., Devroede G., Chevrollier M., Lebeurier F., Congard P., Arhan P. A comparative study of esophageal and anorectal motility in myotonic dystrophy. Dig Dis Sci 44:1090-99, 1999.
  8. Marchi S., Polloni A., Bellini M., Costa F., Tumino E., Masi M.C., Rossi B., Siciliano G., Maltinti G. Gastrointestinal manifestations in myotonic muscular dystrophy: a review. Acta Cardiomiologica 1: 151- 8, 1989.
  9. Modolell I., Mearin F., Baudet J.S., Gamez J., Cervera C., Malagelada J.R. Pharyngo- esophageal motility disturbances in patients with myotonic dystrophy. Scand J Gastroenterol 34: 878-882, 1999.
  10. Motlagh B., MacDonald J.R., Tarnopolsky M.A. Nutritional inadequacy in adults with muscular dystrophy. Muscle Nerve 31:713-8, 2005.
  11. Nowak T.V., Ionasescu V., Anuras S. Gastrointestinal manifestations of the muscular dystrophies. Gastroenterology 82: 800-10, 1982.
  12. Ronnblom A., Forsberg H., Danielsson A. Gastrointestinal symptoms in myotonic dystrophy. Scand J Gastroenterol 31:654-7, 1996.
  13. Sartoretti C., Sartoretti S., DeLorenzi D., Buchmann P. Intestinal non-rotation and pseudoobstruction in myotonic dystrophy: case report and review of the literature. Int J Colorectal Dis 11:10, 1996.
  14. Siegel C.I., Hendrix T.R., Harvey J.C. The swallowing disorder in myotonia dystrophica. Gastroenterology 50:541-50, 1966.
  15. Takhar A.S., Thaper A., Byrne A., Lobo D.N. Laparoscopic cholecystectomy in a patient with myotonic dystrophy. J R Soc Med Jun 97:284-5, 2004.

 

Central Nervous System

  1. Akiguchi I., Nakano S., Shiino A., Kimura R., Inubushi T., Handa J., Nakamura M., Tanaka M., Oka N., Kimura J. Brain proton magnetic resonance spectroscopy and brain atrophy in myotonic dystrophy. Arch. Neurol 56: 325-30, 1999.
  2. Annane D., Moore D.H., Barnes P.R., Miller R.G. Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy. Cochrane Database Syst Rev 2006, 3:CD003218.
  3. Antonini G., Morino S., Fiorelli M., Fiorini M., Giubilei F. Selegiline in the treatment of hypersomnolence in myotonic dystrophy: a pilot study. J Neurol Sci 147:167-9, 1997.
  4. Antonini G., Soscia F., Giubilei F., De Carolis A., Gragnani F., Morino S., Ruberto A., Tatarelli R. Health- related quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. J Rehabil Med 38:181-5, 2006.
  5. Ashizawa T. Myotonic dystrophy as a brain disorder. Arch Neurol 55:291-3, 1998.
  6. Censori B., Provinciali L., Danni M., Chiaramoni L., Maricotti M., Foschi N., Del Pesce M., Salvolini U. Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions. Acta Neurol. Scand 90: 211-7, 1994.
  7. Damian M.S., Bachmann G., Koch M.C., Schilling G., Stoppler S., Dorndorf W. Brain disease and molecular analysis in myotonic dystrophy. Neuroreport 5:2549-52, 1994.
  8. Delaporte C. Personality patterns in patients with myotonic dystrophy. Arch. Neurol 55: 635-40, 1998.
  9. Gaul C., Schmidt T., Windisch G., Wieser T., Muller T., Vielhaber S., Zierz S., Leplow B. Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2). Neurology 67:350-2, 2006.
  10. Gibbs J.W. 3rd, Ciafaloni E., Radtke R.A. Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep 25:662-5, 2002.
  11. Harper P.S. Myotonic Dystrophy. Third ed. W.B. Saunders, London. 2001.
  12. Krishnan A.V., Kiernan M.C. Axonal function and activity-dependent excitability changes in myotonic dystrophy. Muscle Nerve 33:627-36, 2006.
  13. Laberge L., Begin P., Montplaisir J., Mathieu J. Sleep complaints in patients with myotonic dystrophy. J Sleep Res 13:95-100, 2004.
  14. Logullo F., Censori B., Danni M., Del Pesce M., Di Bella P., Provinciali L. Peripheral neuropathy in myotonic dystrophy: electrophysiological and clinical features. Electromyogr Clin Neurophysiol 32:515-20, 1992.
  15. Maurage C.A., Udd B., Ruchoux M.M., Vermersch P., Kalimo H., Krahe R., Delacourte A., Sergeant N. Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. Neurology 65: 1636-8, 2005.
  16. MacDonald J.R., Hill J.D., Tarnopolsky M.A. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 59:1876-80, 2002.
  17. Meola G., Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve 36:294-306, 2007.
  18. Meola G., Sansone V., Perani D., Colleluori A., Cappa S., Cotelli M., Fazio F., Thornton, C.A., Moxley, R.T. Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy. Neurology 53:1042, 1999.
  19. Modoni A., Silvestri G., Pomponi M.G., Mangiola F., Tonali P.A., Marra C. Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Arch Neurol 61:1943-7, 2004.
  20. Olson N.D., Jou M.F., Quast J.E., Nuttall F.Q. Peripheral neuropathy in myotonic dystrophy. Relation to glucose intolerance. Arch Neurol 35:741-5, 1978.
  21. Oyamada R., Hayashi M., Katoh Y., Tsuchiya K., Mizutani T., Tominaga I., Kashima H. Neurofibrillary tangles and deposition of oxidative products in the brain in cases of myotonic dystrophy. Neuropathology 26:107-14, 2006.
  22. Park J.D., Radtke R.A. Hypersomnolence in myotonic dystrophy: demonstration of sleep onset REM sleep. J Neurol Neurosurg Psychiatry 58:512-3, 1995.
  23. Rubinsztein J.S., Rubinsztein D.C., Goodburn S., Holland A.J. Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry 64:510-5, 1998.
  24. Sansone V., Gandossini S, Cotelli M., Calabria M., Zanetti O., Meola G. Cognitive impairment in adult myotonic dystrophies: a longitudinal study. Neurol Sci 28:9-15, 2007.
  25. Sergeant N., Sablonniere B., Schraen-Maschke S., Ghestem A., Maurage C.-A., Wattez A., Vermersch P., Delacourte A. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum. Molec. Genet 10:2143-55, 2001.
  26. Spranger M., Spranger S., Tischendorf M., Meinck H.M., Cremer M. Myotonic dystrophy. The role of large triplet repeat length in the development of mental retardation. Arch Neurol 54:251-4, 1997.
  27. Talbot K., Stradling J., Crosby J., Hilton-Jones D. Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. Neuromuscul Disord 13:357-64, 2003.
  28. Turnpenny P., Clark C., Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J. Med. Genet 31:300-5, 1994.
  29. Winblad S., Lindberg C., Hansen S. Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). Behav Brain Funct May 15 2:16, 2006.
  30. Winblad S., Lindberg C., Hansen S. Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). Neuromuscul Disord 15:287-92, 2005.
  31. Wintzen A.R., Lammers G.J., van Dijk J.G. Does modafinil enhance activity of patients with myotonic dystrophy?: a double-blind placebo-controlled crossover study. J Neurol Jan 254:26-8, 2007.

 

Reproductive and Endocrine

  1. Rakocevic-Stojanovic V.; Savic D.; Pavlovic S.; Lavrnic D.; Stevic Z.; Basta I.; Romac S.; Apostolski S. Intergenerational changes of CTG repeat depending on the sex of the transmitting parent in myotonic dystrophy type 1. Eur J Neurol 12:236-7, 2005.
  2. Rudnik-Schoneborn S.; Zerres K. Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature. EJOG vol 114: 44-53, 2004.
  3. Savkur R.S.; Philips A.V.; Cooper T.A.; Dalton J.C.; Moseley M.L.; Ranum L.P.; Day J.W. Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet Jun 74:1309-13, 2004.
  4. Sarkar P.S.; Paul S.; Han J.; Reddy S. Six5 is required for spermatogenic cell survival and spermiogenesis. Hum. Molec. Genet 13: 1421-1431, 2004.
  5. Johansson A.; Ahrén B.; Forsberg H.; Olsson T. Testosterone and diurnal rhythmicity of leptin, TNF-alpha and TNF-II receptor in insulin-resistant myotonic dystrophy patients. Int J Obes Relat Metab Disord Oct 26:1386-92, 2002.
  6. Magee A.C.; Hughes A.E.; Kidd A.; Lopez de Munain A.; Cobo A.M.; Kelly K.; Dean J.; Nevin N.C. Reproductive counseling for women with myotonic dystrophy. J Med Genet 39: e15, 2002.
  7. Savkur R.S.; Philips A.V.; Cooper T.A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29:40-7, 2001.
  8. Rudnik-Schoneborn S.; Nicholson G.A.; Morgan G.; Rohrig D.; Zerres K. Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus. Am. J. Med. Genet 80: 314-21, 1998.
  9. Bergoffen J.; Kant J.; Sladky J.; McDonald-McGinn D.; Zackai E.H.; Fischbeck K.H. Paternal transmission of congenital myotonic dystrophy. J. Med. Genet 31: 518-20, 1994.
  10. Roig M.; Balliu P.-R.; Navarro C.; Brugera R.; Losada M. Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediat. Neurol 11: 208-13, 1994.
  11. Vazquez, JA, Pinies, JA, Martul, P, De los Rios A.; Gatzambide S.; Busturia M.A. Hypothalamic-pituitary- testicular function in 70 patients with myotonic dystrophy. J Endocrinol Invest 13:375, 1990.
  12. Middleton P.G.; Posen S.; Shannon G. Hyperparathyroidism in a patient with myotonic dystrophy. J R Soc Med Apr 82:227, 1989.
  13. Banerjee D.; McClintock J.; Silver M.M.; Hudson A.J. Monocyte IgG-Fc receptors in myotonic dystrophy. Clin Exp Immunol Dec 50:572-8, 1982.
  14. Moxley R.T. 3rd; Livingston J.N.; Lockwood D.H.; Griggs R.C.; Hill R.L. Abnormal regulation of monocyte insulin-binding affinity after glucose ingestion in patients with myotonic dystrophy. Proc Natl Acad Sci USA Apr 78:2567-71, 1981.
  15. Larsen B.; Johnson G.; van Loghem E.; Marshall W.H.; Newton R.M.; Pryse-Phillips W.; Skanes V. Immunoglobulin concentration and Gm allotypes in a family with thirty-three cases of myotonic dystrophy. Clin. Genet 18: 13-9, 1980.
  16. Takeda R.; Ueda M. Pituitary-gonadal function in male patients with myotonic dystrophy- serum luteinizing hormone, follicle stimulating hormone and testosterone levels and histological damage of the testis. Acta Endocrinol (Copenh) Feb 84:382-9, 1977.
  17. Seay A.R.; Ziter F.A.; Hill H.R. Defective neutrophil function in myotonic dystrophy. J. Neurol Sci 35: 25-30, 1978.
  18. Webb D.; Muir I.; Faulkner J.; Johnson G. Myotonia dystrophica; obstetric complications. Am. J. Obstet. Gynec 132: 265-70, 1978.
  19. Sarnat H.B.; O’Connor T.; Byrne P.A. Clinical effects of myotonic dystrophy on pregnancy and the neonate. Arch Neurol 33:459-65, 1976.
  20. Sagel J.; Distiller L.A.; Morley J.E.; Isaacs H.; Kay G.; van der Walt A. Myotonia dystrophica: studies on gonadal function using luteinising-releasing-hormone (LRH). J. Clin. Endocr. Metab 40: 1110, 1975.
  21. Harper P.S.; Dyken P.R. Early-onset dystrophia myotonica: evidence supporting a maternal environmental factor. Lancet II 53-55, 1972.
  22. Wochner R.D.; Drews G.; Strober W.; Waldmann T.A. Accelerated breakdown of immunoglobulin G (IgG) in myotonic dystrophy: a hereditary error of immunoglobulin catabolism. J. Clin. Invest 45: 321-9, 1966.

 

Immune System and Tumor

  1. Bruyland M., Lissens W., De Waele M., Demanet C. Hypo-IgG in myotonic dystrophy is due to a selective reduction of the IgG1-subclass serum level. Muscle Nerve Oct 17:1233-4, 1994.
  2. Cigliano B., Baltogiannis N., De Marco M., Faviou E., Settimi A., Tilemis S., Soutis M., Papandreou E., D’Agostino S., Fabbro M.A. Pilomatricoma in childhood: a retrospective study from three European paediatric centres. Eur J Pediatr 164:673-7, 2005.
  3. Chuang C.C., Lin H.C. Pilomatrixoma of the head and neck. J Chin Med Assoc Dec 67:633-6, 2004.
  4. Day J.W., Ricker K., Jacobsen J.F., Rasmussen L.J., Dick K.A., Kress W., Schneider C., Koch M.C., Beilman G.J., Harrison A.R., Dalton J.C., Ranum L.P. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology Feb 25 60:657-64, 2003.
  5. Geh J.L., Moss A.L. Multiple pilomatrixomata and myotonic dystrophy: a familial association. Br J Plast Surg 52:143-5, 1999.
  6. Hubbard V.G., Whittaker S.J. Multiple familial pilomatricomas: an unusual case. J Cutan Pathol. Mar 31:281-3, 2004.
  7. Kim J., Hayton W.L., Robinson J.M., Anderson C.L. Kinetics of FcRn-mediated recycling of IgG and albumin in human: pathophysiology and therapeutic implications using a simplified mechanism-based model. Clin Immunol Feb 122:146-55, 2007.
  8. Kudva G.C., Maliekel K., Kim H.J., Naunheim K.S., Stolar C., Fletcher J.W., Puri S. Thymoma and myotonic dystrophy: successful treatment with chemotherapy and radiation: case report and review of the literature. Chest Jun 121:2061-3, 2002.
  9. Nakamura A., Kojo T., Arahata K., Takeda S. Reduction of serum IgG level and peripheral T-cell counts are correlated with CTG repeat lengths in myotonic dystrophy patients. Neuromuscul Disord May 6:203-10, 1996.
  10. Pan-Hammarström Q., Wen S., Ghanaat-Pour H., Solders G., Forsberg H., Hammarström L. Lack of correlation between the reduction of serum immunoglobulin concentration and the CTG repeat expansion in patients with type 1 dystrophia [correction of Dystrofia] myotonica. J Neuroimmunol Nov, 144:100-4, 2003.
  11. Reimund J.M., Duclos B., Chamouard P., Warter J.M., Weill J.P., Baumann R. Intestinal carcinoid tumor and myotonic dystrophy. A new association? Dig Dis Sci Dec 37:1922-5, 1992.
  12. Saponaro A.E., Marini M.A., Rossi G.C., Casas J.G. Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1. Int J Dermatol Jan 45:87-8, 2006.
  13. Schara U., Schoser B.G. Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin Pediatr Neurol Jun,13:71-9, 2006.
  14. Terrence C.F. Myotonic dystrophy and multiple sclerosis. J Neurol Oct 4 213:305-8, 1976.
  15. Vandecaveye V., Verswijvel G., Colla P., Verhelst H., VanRobaeys J., Palmers Y. Cystic insulinoma of the pancreas in a patient with myotonic dystrophy: correlation of imaging and pathologic findings. JBR- BTR Sep-Oct 86:268-71, 2003.
  16. Waldmann T.A., Polmar S.H., Balestra S.T., Jost M.C., Bruce R.M., Terry W.D. Immunoglobulin E in immunologic deficiency diseases. II. Serum IgE concentration of patients with acquired hypogammaglobulinemia, thymoma and hypogammaglobulinemia, myotonic dystrophy, intestinal lymphangiectasia and Wiskott-Aldrich syndrome. J Immunol Aug 109:304-10, 1972.
  17. Waldmann T.A., Strober W., Blaese R.M., Terry W.D. Immunoglobulin metabolism in disease. Birth Defects. Orig Artic Ser. 11:87-94, 1975.

 

Vision

  1. Arsenault M.-E., Prévost C., Lescault A., Laberge C., Puymirat J., Mathieu J. Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology 66: 1248-50, 2006.
  2. Baig K.M., Discepola M. Recurrent capsular opacification after Nd:YAG laser treatment in myotonic dystrophy. Can J Ophthalmol 42:489-490, 2007.
  3. Bollinger K.E., Kattouf V., Arthur B., et al. Hypermetropia and esotropia in myotonic dystrophy. J Aapos 12:69-71, 2008.
  4. Harper PS. Myotonic Dystrophy. Third ed, W.B. Saunders, London 2001.
  5. Medica I., Teran N., Volk M., Pfeifer V., Ladavac E., Peterlin B. Patients with primary cataract as a genetic pool of DMPK protomutation. J Hum Genet 52:123-8, 2007.
  6. Schein O.D., Katz J., Bass E.B., Tielsch J.M., Lubomski L.H., Feldman M.A., Petty B.G., Steinberg E.P. The value of routine preoperative medical testing before cataract surgery. Study of medical testing for cataract surgery. N Engl J Med Jan 20 342:168-75, 2000.
  7. Shaunak S., Orrell R., Henderson L., Kennard C. Saccades and smooth pursuit in myotonic dystrophy. J Neurol 246:600-606, 1999.
  8. Versino M., Rossi B., Beltrami G., et al. Ocular motor myotonic phenomenon in myotonic dystrophy. J Neurol Neurosurg Psychiat 72:236-240, 2002.

 

Speech and Swallowing

  1. Lisa Bengtsson, MS; Kiera Berggren, MA/CCC-SLP, MS; Lenie van den Engel-Hoek, PhD; Simone Knuijt, PhD; Lotta Sjögreen, PhD; Kristi Williams, M.S. CCC-SLP. Care Guidelines for Speech and Language Pathologists Treating Adults and Children with Myotonic Dystrophy. 2020. Myotonic Dystrophy Foundation. https://www.myotonic.org/sites/default/files/pages/files/MDF_SLP_Guide_1_2021.pdf

 

Diabetes

  1. Renna LV, Bosè F, Iachettini S, Fossati B, Saraceno L, Milani V, Colombo R, Meola G, Cardani R. Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle. PLoS One. Sep 15;12(9):e0184987, 2017.

 

Excessive Daytime Sleepiness

  1. Franco Giubilei, Giovanni Antonini, Stefano Bastianello, Stefania Morino, Andrea Paolillo, Marco Fiorelli, Cinzia Ferretti, Cesare Fieschi. Excessive daytime sleepiness in myotonic dystrophy. Journal of the Neurological Sciences, Vol 164, Issue 1, 1999, Pages 60-63.

 

Genetic Testing

  1. Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S. Molecular genetics and genetic testing in myotonic dystrophy type 1. Biomed Res Int. 2013:391821, 2013.

Diagnostic Odyssey

  1. Sarah Howe, Marigold Foundation and the Christopher Project Reference Group. The Christopher Project: Report to the Myotonic Dystrophy Community. Marigold Foundation. Pages 23-24. Spring 2019.

 

Drug Development

  1. Newcastle University John Walton Muscular Dystrophy Research Centre. Myotonic Dystrophy Drug Development Pipeline. 2021. Accessed May 7, 2021: https://www.myotonic.org/sites/default/files/pages/files/Myotonic-Dystrophy-Drug-Development-Pipeline-as-of-March-8th-2021.pdf
  2. Myotonic Dystrophy Foundation. Voice of the Patient Report Summary report resulting from an Externally-led Patient-Focused Drug Development meeting, an effort to expand the benefits of the U.S. Food and Drug Administration’s (FDA’s) Patient-Focused Drug Development Initiative. 2017. Accessed May 7, 2021: https://www.myotonic.org/sites/default/files/MDFVoicePatientReportMay2017.pdf 

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