nach oben

Erschienen in:

01.09.2013 | Original Article

Oral Motor Movements and Swallowing in Patients with Myotonic Dystrophy Type 1

verfasst von: Beatriz Ercolin, Fernanda Chiarion Sassi, Laura Davison Mangilli, Lucia Iracema Zanotto Mendonça, Suelly Cecilia Olivan Limongi, Claudia Regina Furquim de Andrade

Erschienen in: Dysphagia | Ausgabe 3/2013

Einloggen, um Zugang zu erhalten

Abstract

Oropharyngeal dysphagia and esophageal motility disorders were found to be the most important causes of aspiration pneumonia in patients with myotonic dystrophy. The purpose of this report was to evaluate clinical characteristics of the oral motor movements and swallowing of individuals with myotonic dystrophy type 1 (DM1) using a standardized clinical protocol and surface electromyography (sEMG). Participants were 40 individuals divided in two groups: G1 composed of 20 adults with DM1 and G2 composed of 20 healthy volunteers paired by age and gender to the individuals in G1. Statistical analysis included one-way ANOVA with two factors for within- and between-group comparisons and Bonferroni correction for multiple comparisons. Patients with DM1 presented deficits in posture, position, and mobility of the oral motor structures, as well as compromised mastication and deglutition. The sEMG data indicated that these patients had longer muscle activations during swallowing events. The longer duration of sEMG in the group of patients with DM1 is possibly related to myotonia and/or incoordination of the muscles involved in the swallowing process or could reflect a physiological adaptation for safe swallowing.

Harley HC, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992;355(6360):545–6.PubMedCrossRef

Shaw DJ, Harper PS. Myotonic dystrophy: developments in molecular genetics. Br Med Bull. 1989;45(3):745–59.PubMed

Harley HG, Rundle SA, MacMillan JC, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet. 1993;52(6):1164–74.PubMed

Mathieu J, Allard P, Potvin L, et al. A 10 year study of mortality in a cohort of patients with myotonic dystrophy. Neurology. 1999;52(8):1658–62.PubMedCrossRef

Yotova V, Labuda D, Zietkiewicz E, et al. Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet. 2005;117(2–3):177–87.PubMedCrossRef

Gagnon C, Chouinard MC, Laberge L, et al. Health supervision and anticipatory guidance in adult myotonic dystrophy type 1. Neuromuscul Disord. 2010;20(12):847–51. doi:10.1016/j.nmd.2010.08.006.PubMedCrossRef

Peñarrocha M, Bagán JV, Vilchez J, et al. Oral alterations in Steinert’s myotonic dystrophy: a presentation of two cases. Oral Surg Oral Med Oral Pathol. 1990;69(6):698–700.PubMedCrossRef

Mercier J, Bennani F, Ferri J, et al. Maxillofacial manifestations of Steinert’s myotonic dystrophy. Rev Stomatol Chir Maxillofac. 1995;96(2):74–82.PubMed

Sovari AA, Bodine CK, Farokin F. Cardiovascular manifestation of myotonic dystrophy-1. Cardiol Rev. 2007;15(4):191–4. doi:10.1097/CRD.0b013e318070d1a7.PubMedCrossRef

10.

Ramig LA, Scherer RC, Titze IR, et al. Acoustic analysis of voice of patients with neurologic disease: rationale and preliminary data. Ann Otol Rhinol Laryngol. 1988;97(2 Pt 1):164–72.PubMed

11.

Salomonson J, Kawamoto H, Wilson J. Velopharyngeal incompetence as the presenting symptom of myotonic dystrophy. Cleft Palate J. 1988;25(3):296–300.PubMed

12.

Weinberg B, Bosma JF, Shanks JC, et al. Myotonic dystrophy initially manifested by speech disability. J Speech Hear Disord. 1968;33(1):51–9.PubMed

13.

de Swart BJ, van Engelen BG, van de Kerkhof JP, et al. Myotonia and flaccid dysarthria in patients with adult onset myotonic dystrophy. J Neurol Neurosurg Psychiatry. 2004;75(10):1480–2. doi:10.1136/jnnp.2003.032151.PubMedCrossRef

14.

Darley FL, Aronson AE, Brown JR. Motor speech disorders. Philadelphia: WB Saunders; 1975.

15.

McNeil MR. Clinical management of sensorimotor speech disorders. Stuttgart: Thieme; 1997.

16.

de Die Smulders CE, Höweler CJ, Thijs C et al. Age and causes of death in adult-onset myotonic dystrophy. Brain. 1998;121:1557-63.

17.

Mizuno T, Komaki H, Sasaki M, et al. Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients. Brain Dev. 2012;34:756–62. doi:10.1016/j.braindev.2011.11.012.PubMedCrossRef

18.

Peric S, Rakocevic-Stojanovic V, Basta I, et al. Influence of multisystemic affection on health-related quality of life in patients with myotonic dystrophy type 1. Clin Neurol Neurosurg. 2013;115(3):270–5. doi:10.1016/j.clineuro.2012.05.015.PubMedCrossRef

19.

Bellini M, Biagi S, Stasi C, et al. Gastrointestinal manifestations in myotonic muscular dystrophy. World J Gastroenterol. 2006;12:1821–8.PubMed

20.

Harvey JC, Sherbourne DH, Siegel CI. Smooth muscle involvement in myotonic dystrophy. Am J Med. 1965;39:81–90.PubMedCrossRef

21.

Ertekin C, Yüceyar N, Aydogdu I, et al. Electrophysiological evaluation of oropharyngeal swallowing in myotonic dystrophy. J Neurol Neurosurg Psychiatry. 2001;70(3):363–71. doi:10.1136/jnnp.70.3.363.PubMedCrossRef

22.

Chiappetta AL, Oda AL, Zanoteli E et al. Oropharyngeal dysphagia in the myotonic dystrophy: phonoaudiological evaluation and nasofibrolaryngoscopical analysis. Arq Neuropsiquiatr. 2001;59(2-B):394–400.

23.

Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry. 2010;81(4):358–67. doi:10.1136/jnnp.2008.158261.PubMedCrossRef

24.

Eisenhuber E, Schima W, Schober E, et al. Videofluoroscopic assessment of patients with dysphagia: pharyngeal retention is a predictive factor for aspiration. AJR Am J Roentgenol. 2002;178(2):393–8.PubMedCrossRef

25.

Ertekin C, Aydogdu I, Yüceyar N. Piecemeal deglutition and dysphagia limit in normal subjects and in patients with swallowing disorders. J Neurol Neurosurg Psychiatry. 1996;61(5):491–6.PubMedCrossRef

26.

Vaiman M. Standardization of surface electromyography utilized to evaluate patients with dysphagia. Head Face Med. 2007;3:26. doi:10.1186/1746-160X-3-26.PubMedCrossRef

27.

Ertekin C, Aydogdu I, Yüceyar N, et al. Electrodiagnostic methods for neurogenic dysphagia. Electroencephalogr Clin Neurophysiol. 1988;109(4):331–40.CrossRef

28.

Alfonsi E, Veríssimo M, Merlo IM, et al. Electrophysiologic patterns of oral-pharyngeal swallowing in parkinsonian syndromes. Neurology. 2007;68(8):583–90.PubMedCrossRef

29.

Coriolano MD, Belo LR, Carneiro D, et al. Swallowing in patients with Parkinson’s disease: a surface electromyography study. Dysphagia. 2012;27(4):550–5. doi:10.1007/s00455.012-9406-0.CrossRef

30.

American Speech-Language-Hearing Association. National Outcome Measurement System (NOMS). Adult Speech-Language Pathology training manual. Rockville, MD: ASHA; 1998.

31.

Wesling M, Brady S, Jensen M, et al. Dysphagia outcomes in patients with brain tumors undergoing inpatient rehabilitation. Dysphagia. 2003;18:203–10. doi:10.1007/s00455-002-0098-8.PubMedCrossRef

32.

Felício CM, Ferreira CL. Protocol of orofacial myofunctional evaluation with scores. Int J Pediatr Otorhinolaryngol. 2008;72(3):367–75. doi:10.1016/j.ijporl.2007.11.012.PubMedCrossRef

33.

Felício CM, Medeiros APM, Melchior MO. Validity of the ‘protocol of oro-facial myofunctional evaluation with scores’ for young and adult subjects. J Oral Rehabil. 2012;39:744–53. doi:10.11/j.l365-2842.2012.02336.x.PubMedCrossRef

34.

Contardi S, Pizza F, Falzoni F, et al. Development of a disability scale for myotonic dystrophy type 1. Acta Neurol Scand. 2012;125:431–8. doi:10.1111/j.1600-0404.2011.01587.x.PubMedCrossRef

35.

Hammarén E, Kjellby-Wendt G, Linderberg C. Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist. Neuromuscul Disord. 2005;15(9–10):610–7. doi:10.1016/j.nmd.2005.07.002.PubMedCrossRef

36.

Kierkegaard M, Tollbäck A. Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy. Neuromuscul Disord. 2007;17(11–12):943–9. doi:10.1016/j.nmd.2007.08.003.PubMedCrossRef

37.

Moxley RT 3rd, Logigian EL, Martens WB, et al. Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1). Muscle Nerve. 2007;36(3):320–8. doi:10.1002/mus.20822.PubMedCrossRef

38.

Sansone V, Marinou K, Salvucci J, et al. Quantitative myotonia assessment: an experimental protocol. Neurol Sci. 2000;21(5 Suppl):S971–4.PubMedCrossRef

39.

Vincent KA, Carr AJ, Walburn J, et al. Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL). Neurology. 2007;68(13):1051–7.PubMedCrossRef

40.

Felício CM, Folha GA, Ferreira CLP, Medeiros APM. Expanded protocol of orofacial myofunctional evaluation with scores: validity and reliability. Int J Pediatr Otorhinolaryngol. 2010;74:1230–9. doi:10.1016/j.ijporl.2010.07.021.PubMedCrossRef

41.

Vaiman M, Eviatar E, Segal S. Evaluation of normal deglutition with the help of rectified surface electromyography records. Dysphagia. 2004;19:125–32. doi:10.1007/s00455-003-0504-x.PubMedCrossRef

42.

Ertekin C, Tarlaci S, Aydoglu I, et al. Electrophysiological evaluation of pharyngeal phase of swallowing in patients with Parkinson’s disease. Mov Disord. 2002;17(5):942–9. doi:10.1002/mds.10240.PubMedCrossRef

43.

Conravey A, Santana-Gould L. Myotonia congenita and myotonic dystrophy: surveillance and management. Curr Treat Options Neurol. 2010;12(1):16–28. doi:10.1007/s11940-009-0055-z.PubMedCrossRef

44.

Araújo FS, Bessa Júnior RC, Castro CH, et al. Anesthesia in a patient with Steinert disease: case report. Rev Bras Anestesiol. 2006;56(6):649–53.PubMedCrossRef

45.

Buchholz DW. Dysphagia associated with neurological disorders. Acta Otorhinolaryngol Belg. 1994;48(2):143–55.PubMed

46.

Fu YH, Pizzuti A, Fenwick RG Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992;255(5049):1256–8.PubMedCrossRef

47.

Ambrosio AR, Trevilatto PC, Martins LP, et al. Electromyographic evaluation of the upper lip according to the breathing mode: a longitudinal study. Braz Oral Res. 2009;23(4):415–23.PubMedCrossRef

48.

Wilbourn AJ, Ferrante MA. Clinical electromyography. In: Joynt RJ, Griggs RC editors. Baker’s clinical neurology. Philadelphia: WB Saunders; 2000 (book on CD-ROM).

49.

Cooper RG, Stokes MJ, Edwards RH. Physiological characterization of the “warm-up” effect of activity in patients with myotonic dystrophy. J Neurol Neurosurg Psychiatry. 1988;51(9):1134–41.PubMedCrossRef

Titel: Oral Motor Movements and Swallowing in Patients with Myotonic Dystrophy Type 1
verfasst von: Beatriz Ercolin
Fernanda Chiarion Sassi
Laura Davison Mangilli
Lucia Iracema Zanotto Mendonça
Suelly Cecilia Olivan Limongi
Claudia Regina Furquim de Andrade
Publikationsdatum: 01.09.2013
Verlag: Springer US
Erschienen in: Dysphagia / Ausgabe 3/2013
Print ISSN: 0179-051X
Elektronische ISSN: 1432-0460
DOI: https://doi.org/10.1007/s00455-013-9458-9

Update HNO

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.

Newsletter bestellen

Springer Medizin

Oral Motor Movements and Swallowing in Patients with Myotonic Dystrophy Type 1

Abstract

Neu im Fachgebiet HNO

Akuter Schwindel: Wann lohnt sich eine MRT?

Bei schweren Reaktionen auf Insektenstiche empfiehlt sich eine spezifische Immuntherapie

HNO-Op. auch mit über 90?

Intrakapsuläre Tonsillektomie gewinnt an Boden

Update HNO

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2013

Cross-Sectional Area of the Anterior Belly of the Digastric Muscle: Comparison of MRI and Ultrasound Measures

Can an Oral Mechanism Examination Contribute to the Assessment of Odds of Aspiration?

Esophageal Motility Disorders after Bariatric Surgery

Differences in Dysphagia Between Spinocerebellar Ataxia Type 3 and Type 6

Systematic Review of Dose–Volume Correlates for Structures Related to Late Swallowing Disturbances After Radiotherapy for Head and Neck Cancer

Challenges in Preparing Contrast Media for Videofluoroscopy

Neu im Fachgebiet HNO

Akuter Schwindel: Wann lohnt sich eine MRT?

Bei schweren Reaktionen auf Insektenstiche empfiehlt sich eine spezifische Immuntherapie

HNO-Op. auch mit über 90?

Intrakapsuläre Tonsillektomie gewinnt an Boden

Update HNO