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Review

Hereditary muscular diseases and symptoms from the gastrointestinal tract

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Pages 1-4 | Received 16 Jan 2003, Accepted 18 Jun 2003, Published online: 08 Jul 2009

References

  • Steen L, Ek B. Familial amyloidosis with polyneuropathy. Aspects of the relationship between gastrointestinal symptoms, EMG findings, and malabsorption studies. Scand J Gastroenterol 1984;19:480–6.
  • Nowak TV, Ionasescu V, Anuras S. Gastrointestinal manifestation of the muscular dystrophies. Gastroenterology 1982;82:800–10.
  • Harper PS. The genetic basis of myotonic dystrophy. In: Myotonic dystrophy, 2nd edn. London: Saunders; 1989. p. 316–20.
  • Siciliano G, Manca M, Gennarelli M, Angelini C, Rocchi A, Iudice A, et al. Epidemiology of myotonic dystrophy in Italy: reapprisal after genetic diagnosis. Clin Genet 2001;59:344–9.
  • Olofsson B-O, Forsberg H, Andersson S, Bjerle P, Henriksson A, Wedin I. Electrocardiographic findings in myotonic dystrophy. Br Heart J 1988;59:47–52.
  • Perron M, Veillette S, Desbiens F, Mathieu J. Comportements sociodemographiques des individus atteints de dystrophie myotonique. Cah Québécois Démogr 1986;15:75–110.
  • Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448–52.
  • Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545–6.
  • Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001; 293 (5531)864–7.
  • Kohn NN, Faires JS, Rodman T. Unusual manifestations due to involvement of involuntary muscle in dystrophia myotonica. N Engl J Med 1964;271:1179–83.
  • Pruzanski W, Profis A. Dysfunction of the alimentary tract in myotonic dystrophy. Israel J Med Sci 1966;2:59–64.
  • Ronnblom A, Forsberg H, Danielsson A. Gastrointestinal symptoms in myotonic dystrophy. Scand J Gastroenterol 1996; 31:654–7.
  • Steinert H. Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker. Dtsch Z Nervenheilkd 1909; 37:58–104.
  • Garcia V, M TP. Manifestaciones sistemicas en la distrofia miotonica o enfermedad de Steinert. Med Clin (Barc) 1985;84: 448–87.
  • Modolell I, Mearin F, Baudet JS, Gamez J, Cervera C, Malagelada JR. Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy. Scand J Gastroenterol 1999; 34:878–82.
  • Schuman BM, Rinaldo JA, Darnley D. Visceral changes in myotonic dystrophy. Ann Intern Med 1965;63:793–9.
  • Rönnblom A, Andersson S, Hellström PM, Danielsson A. Gastric emptying in myotonic dystrophy. Eur J Clin Invest 2002; 32:570–4.
  • Horowitz M, Maddox A, Maddern GJ, Wishart J, Collins PJ, Shearman DJC. Gastric and esophageal emptying in dystrophia myotonica. Gastroenterology 1987;92:570–7.
  • Rönnblom A, Andersson S, Danielsson Å. Mechanisms of diarrhoea in myotonic dystrophy. Eur J Gastroenterol Hepatol 1998;10:607–10.
  • Woods CA, Foutch PG, Kerr DMM, Haynes WC, Sanowski RA. Collagenous sprue as a cause for malabsorption in a patient with myotonic dystrophy: a new association. Am J Gastroenterol 1988;83:755–6.
  • Reardon W, Hughes HE, Green SH, Lloyd Woolley V, Harper PS. Anal abnormalities in childhood myotonic dystrophy: a possible source of confusion in child sexual abuse. Arch Dis Child 1992;67:527–8.
  • Eckardt VF, Nix W. The anal sphincter in patients with myotonic muscular dystrophy. Gastroenterology 1991;100:424–30.
  • Chiu VS, Englert E. Gastrointestinal disturbances in myotonica dystrophica. Gastroenterology 1962;42:745–6.
  • Harper PS. Anaesthetic risks in myotonic dystrophy. In: Myotonic dystrophy, 2nd edn. London: Saunders; 1989. p. 114–6.
  • Rönnblom A, Danielsson Å, El-Salhy M. Intestinal endocrine cells in myotonic dystrophy. An immunocytochemical and computed image analytical study. J Int Med 1999;245:91–7.
  • Ronnblom A, Hellstrom PM, Holst JJ, Theodorsson E, Danielsson A. Gastric myoelectrical activity and gut hormone secretion in myotonic dystrophy. Eur J Gastroenterol Hepatol 2001;13:825–31.
  • Horowitz M, Maddox A, Wishart J, Collins PJ, Shearman DJC. The effect of cisapride on gastric and oesophageal emptying in dystrophia myotonica. J Gastroenterol Hepatol 1987;2:285–93.
  • Walker AM, Szneke P, Weatherby LB, Dicker LW, Lanza LL, Loughlin JE, et al. The risk of serious cardiac arrhythmias among cisapride users in the United Kingdom and Canada. Am J Med 1999;107:356–62.
  • Forsberg H. Cardiac involvement in myotonic dystrophy [Thesis, New Series No. 272]. Umeå: Umeå University; 1990.
  • Janssens J, Peeters TL, GV. Improvement of gastric emptying in diabetic gastroparesis by erythromycin: preliminary studies. N Engl J Med 1990;322:1028–31.
  • Pettengell KE, Spitaels JM, Simjee AE. Dysphagia and dystrophia myotonica. A case report. S Afr Med J 1985; 68: 113–4.
  • Emery AE. The muscular dystrophies. Lancet 2002; 359 (9307)687–95.
  • Emery AE. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1991;1:19–29.
  • Barohn RJ, Levine Ej, Olson JO, Mendell JR. Gastric hypomotility in Duchenne’s muscular dystrophy. N Engl J Med 1988;319:15–8.
  • Bensen ES, Jaffe KM, Tarr PI. Acute gastric dilatation in Duchenne muscular dystrophy: a case report and review of the literature. Arch Phys Med Rehabil 1996;77:512–4.
  • Leon SH, Schuffler MD, Kettler M, Rohrmann CA. Chronic intestinal pseudoobstruction as a complication of Duchenne’s muscular dystrophy. Gastroenterology 1986;90:455–9.
  • Jaffe KM, McDonald CM, Ingman E, Haas J. Symptoms of upper gastrointestinal dysfunction in Duchenne muscular dystrophy: case-control study. Arch Phys Med Rehabil 1990; 71:742–4.
  • Chung BC, Park HJ, Yoon SB, Lee HW, Kim KW, Lee SI, et al. Acute gastroparesis in Duchenne’s muscular dystrophy. Yonsei Med J 1998;39:175–9.
  • Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18: 164–7.
  • Roberts AH, Bamforth J. The pharynx and esophagus in ocular muscular dystrophy. Neurology 1968;18:645–52.
  • Perie S, Eymard B, Laccourreye L, Chaussade S, Fardeau M, Lacau St Guily J. Dysphagia in oculopharyngeal muscular dystrophy: a series of 22 French cases. Neuromuscul Disord 1997;7 Suppl 1:S96–9.
  • Mathieu J, Lapointe G, Brassard A, Tremblay C, Brais B, Rouleau GA, et al. A pilot study on upper esophageal sphincter dilatation for the treatment of dysphagia in patients with oculopharyngeal muscular dystrophy. Neuromuscul Disord 1997;7 Suppl 1:S100–4.
  • Restivo DA, Marchese Ragona R, Staffieri A, de Grandis D. Successful botulinum toxin treatment of dysphagia in oculopharyngeal muscular dystrophy. Gastroenterology 2000; 119: 1416.
  • Suhr O, Danielsson Å, Rydh A, Nyhlin N, Hietala S, Steen L. Impact of gastrointestinal dysfunction on survival after liver transplantation for familial amyloidotic polyneuropathy. Dig Dis Sci 1996;41:1909–14.
  • Suhr O, Danielsson Å, Steen L. Bile acid malabsorption caused by gastrointestinal motility dysfunction? An investigation of gastrointestinal disturbances in familial amyloidosis with polyneuropathy. Scand J Gastroenterol 1992;27:201–7.

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