Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Cricopharyngeal Dilatation for the Long-term Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy

  • 704 Accesses

  • 12 Citations

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a rare autosomal dominant, progressive degenerative muscle disorder featuring dysphagia with limited therapeutic options. The aim of this study was to evaluate the safety and efficacy of repeated endoscopic dilatation for OPMD over a 15-year period. All patients seen at our Regional Swallowing Clinic with OPMD confirmed by genetic analysis were included. Cricopharyngeal dilatation was performed as an outpatient procedure using a wire-guided 18-mm (54 Fr) Savary-Gilliard bougie with the patient under sedation. Patients were offered repeat endoscopic dilatation when symptoms recurred. Symptom severity prior to initial dilatation and at follow-up was evaluated using the Sydney Swallow Questionnaire (SSQ). Nine patients (7 female, 2 male) were included for analysis. Median total treatment period was 13 years (range = 3–15), median number of dilatations per patient was 7.2 (range = 1–16), and median interval between treatments was 15 months (range = 4.5–45). All patients recorded sustained symptom improvement. Mean SSQ score (out of 1,700) was 1,108.11 (SD ± 272.85) prior to first dilatation and 297.78 (SD ± 189.14) at last follow-up, representing a 73% decrease (95% CI = 52–94) in degree of dysphagia symptoms (paired t-test, P = 0.0001). All mean scores for individual questions also showed significant improvement (P < 0.05). No adverse events were reported with all patients maintaining oral feeding at last follow-up. Repeated cricopharyngeal dilatation is a safe, effective, well-tolerated, and long-lasting treatment for dysphagia in OPMD.

This is a preview of subscription content, log in to check access.

References

  1. 1.

    Brais B. Oculopharyngeal muscular dystrophy. Cytogenet Genome Res. 2003;100:252–60.

  2. 2.

    Taylor EW. Progressive vagus-glossopharyngeal paralysis with ptosis: contribution to group of family disease. J Nerve Ment Disord. 1915;42:129–39.

  3. 3.

    Brais B, Bouchard J-P, Xie Y-G, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998;18:164–7.

  4. 4.

    Bouchard JP, Brais B, Brunet D, et al. Recent studies on oculopharyngeal muscular dystrophy in Quebec. Neuromuscul Disord. 1997;7:S22–9.

  5. 5.

    Tiomny E, Khilkevic O, Korczyn AD, et al. Esophageal smooth muscle dysfunction in oculopharyngeal muscular dystrophy. Dig Dis Sci. 1996;41:1350–4.

  6. 6.

    Young EC, Durant-Jones L. Gradual onset of dysphagia: a study of patients with oculopharyngeal muscular dystrophy. Dysphagia. 1997;12:196–201.

  7. 7.

    Duranceau A. Cricopharyngeal myotomy in the management of neurogenic and muscular dysphagia. Neuromuscul Disord. 1997;7:S85–9.

  8. 8.

    Fradet G, Pouliot D, Robichaud R, et al. Upper esophageal sphincter myotomy in oculopharyngeal muscular dystrophy; long-term clinical results. Neuromuscul Disord. 1997;7:S90–5.

  9. 9.

    Perie S, Eymard B, Laccourreye L, et al. Dysphagia in oculopharyngeal muscular dystrophy: a series of 22 French cases. Neuromuscul Disord. 1997;7:S96–9.

  10. 10.

    Coiffier L, Perie S, Laforet P, et al. Long-term results of cricopharyngeal myotomy in oculopharyngeal muscular dystrophy. Otolaryngol Head Neck Surg. 2006;135:218–22.

  11. 11.

    Hill M, Hughes T, Milford C. Treatment for swallowing difficulties (dysphagia) in chronic muscle disease. Cochrane Database Syst Rev. 2004;2:CD004303.

  12. 12.

    Rüegg S, Lehky Hagen M, Hohl U, et al. Oculopharyngeal muscular dystrophy—an under-diagnosed disorder? Swiss Med Wkly. 2005;135(39–40):574–86.

  13. 13.

    Wallace KL, Middleton S, Cook IJ. Development and validation of a self-report symptom inventory to assess the severity of oral-pharyngeal dysphagia. Gastroenterology. 2000;118(4):678–87.

  14. 14.

    Mathieu J, Lapointe G, Brassard A, 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:S100–4.

  15. 15.

    Brigand C, Ferraro P, Martin J, et al. Risk factors in patients undergoing cricopharyngeal myotomy. Br J Surg. 2007;94:978–83.

Download references

Acknowledgments

We are grateful for the input of Dr. David Robinson, Deputy Head of Molecular Genetics, Wessex Regional Genetics Laboratory, UK.

Author information

Correspondence to Joseph G. Manjaly.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Manjaly, J.G., Vaughan-Shaw, P.G., Dale, O.T. et al. Cricopharyngeal Dilatation for the Long-term Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy. Dysphagia 27, 216–220 (2012). https://doi.org/10.1007/s00455-011-9356-y

Download citation

Keywords

  • Dysphagia
  • Muscular dystrophy
  • Oesophageal dilatation
  • OPMD
  • Oculopharyngeal muscular dystrophy
  • Deglutition
  • Deglutition disorders