Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2

Neuromuscular Disorders

Volumn 18, Issue 8, 2008, Pages 646-649

  Tieleman, Alide A ^a   van Vliet, Judith ^a   Jansen, Jan B M J ^a   van der Kooi, Anneke J ^b   Borm, George F ^a   van Engelen, Baziel G M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Constipation; Dysphagia; Gastroenterology; Myotonic Dystrophy type 2; Proximal myotonic myopathy

Indexed keywords

ABDOMINAL PAIN; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONSTIPATION; CONTROLLED STUDY; DYSPHAGIA; FEMALE; GASTROINTESTINAL SYMPTOM; HUMAN; MALE; MYOTONIC DYSTROPHY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE;

ABDOMINAL PAIN; ADULT; AGED; AGED, 80 AND OVER; CONSTIPATION; DEFECATION; DEGLUTITION DISORDERS; FEMALE; GASTROINTESTINAL DISEASES; GASTROINTESTINAL TRANSIT; HEALTH SURVEYS; HUMANS; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; NETHERLANDS; QUESTIONNAIRES; RISK;

EID: 48549094945     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.05.010     Document Type: Article

References (20)

1. Rönnblom A., Forsberg H., and Danielsson A. Gastrointestinal symptoms in Myotonic Dystrophy. Scand J Gastroenterol 31 (1996) 654-657
2. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 602668: 23-2-2007. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602668.
3. Meola G. Clinical and genetic heterogeneity in myotonic dystrophies. Muscle Nerve 23 (2000) 1789-1799
4. Ricker K., Koch M.C., Lehmann-Horn F., et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44 (1994) 1448-1452
5. Liquori C.L., Ricker K., Moseley M.L., et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293 (2001) 864-867
6. Day J.W., Ricker K., Jacobson J.F., et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60 (2003) 657-664
7. 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 16 (2006) 403-413
8. Phillips M.F., Rogers M.T., Barnetson R., et al. PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness. Neuromuscul Disord 8 (1998) 439-446
9. Day J.W., Roelofs R., Leroy B., Pech I., Benzow K., and Ranum L.P. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord 9 (1999) 19-27
10. Grewal R.P., Zhang S., Ma W., Rosenberg M., and Krahe R. Clinical and genetic analysis of a family with PROMM. J Clin Neurosci 11 (2004) 603-605
11. Moxley III R.T., Udd B., and Ricker K. 54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. Neuromuscul Disord 8 (1998) 508-518
12. van Engelen B.G.M., van Veenendaal H., van Doorn P.A., et al. The Dutch neuromuscular database CRAMP (Computer Registry of All Myopathies and Polyneuropathies): development and preliminary data. Neuromuscul Disord 17 (2007) 33-37
13. Bovenschen H.J., Janssen M.J., van Oijen M.G., Laheij R.J., van Rossum L.G., and Jansen J.B. Evaluation of a gastrointestinal symptoms questionnaire. Dig Dis Sci 51 (2006) 1509-1515
14. Bleijenberg G., and Kuijpers H.C. Biofeedback treatment of constipation: a comparison of two methods. Am J Gastroenterol 89 (1994) 1021-1026
15. Mollen R.M.G., Claassen A.T.P.M., and Kuijpers J.H.C. Measurement of colon transit time useful in the evaluation of functional constipation. Ned Tijdschr Geneeskd 142 (1998) 357-361
16. Kuijpers J.H. Transit time measurement. In: Buchman P., and Bruhlman W. (Eds). Investigations of anorectal function disorders (1993), Springer-Verlag, Berlin 115-118
17. Metcalf A.M., Phillips S.F., Zinsmeister A.R., MacCarty R.L., Beart R.W., and Wolff B.G. Simplified assessment of segmental colonic transit. Gastroenterology 92 (1987) 40-47
18. Pemberton J.H., Rath D.M., and Ilstrup D.M. Evaluation and surgical treatment of severe chronic constipation. Ann Surg 214 (1991) 403-411
19. de Die-Smulders C.E.M., Howeler C.J., Thijs C., et al. Age and causes of death in adult-onset myotonic dystrophy. Brain 121 (1998) 1557-1563
20. Torretta A., Mascagni D., Zeri K.P., et al. The megacolon in myotonic dystrophy: case report and review of the literature. Ann Ital Chir 71 (2000) 729-732