DOI: 10.12890/2025_005219

Oesophageal dysmotility in a patient with Charcot-Marie-Tooth disease: report and literature review

Authors

  • Mohammad Kloub Department of Internal Medicine, Saint Micheal’s Medical Center, Newark, USA
  • Abdul-Rahman I Abusalim Department of Internal Medicine, Division of Hospital Medicine, University of Wisconsin School of Medicine and Public Health, Madison, USA
  • Mohamed Eldesouki Department of Internal Medicine, Saint Micheal’s Medical Center, Newark, USA
  • Mohammad Abushanab Department of Internal Medicine, Saint Micheal’s Medical Center, Newark, USA
  • Byron Okwesili Department of Internal Medicine, Division of Gastroenterology and Hepatology, Saint Micheal’s Medical Center, Newark, USA
  • Raed Atiyat Department of Internal Medicine, Division of Gastroenterology and Hepatology, Saint Micheal’s Medical Center, Newark, USA
  • Yatinder Bains Department of Internal Medicine, Division of Gastroenterology and Hepatology, Saint Micheal’s Medical Center, Newark, USA

mohammad_kloub98@yahoo.com

Keywords

Charcot-Marie-Tooth disease, dysphagia, smooth muscle, neurological disorder, aspiration pneumonia, oesophageal dysmotility

Abstract

Oesophageal dysmotility is a serious condition characterised by impaired coordination of oesophageal smooth muscle contractions, which can be secondary to a variety of causes including infection, inflammation and malignancy. The presenting symptoms are variable and include chest or epigastric pain, food regurgitation, heartburn or cough, making it difficult to distinguish. Diagnostic modalities and treatment strategies vary depending on the underlying cause. Once oesophageal dysmotility is suspected, a thorough evaluation is essential as the management strategies and prognosis of the condition differ significantly based on the underlying pathology. A multidisciplinary approach and clinical expertise are essential for optimal patient care and treatment. While neuromuscular disorders are associated with swallowing dysfunction due to oropharyngeal muscle involvement, oesophageal smooth muscles involvement is rare. This case highlights the importance of careful and frequent evaluation of both respiratory and gastrointestinal smooth muscle function, particularly in patients with chronic neurological disorders.

View the entire article

Downloads

References

  1. Chan CK, Mohsenin V, Loke J, Virgulto J, Sipski ML, Ferranti, R. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Chest 1987;91:567–570.
  2. Pareyson D, Marchesi C. Intro to CMT and subtypes associated with autonomic dysfunction and dysmotility. The Lancet Neurology 2009;8:654–667.
  3. Jani-Acsadi A, Krajewski K, Shy ME. Charcot-Marie-Tooth neuropathies: diagnosis and management. Semin Neurol 2008;28:185–194.
  4. Stojkovic T, de Seze J, Dubourg O, Arne-Bes MC, Tardieu S, Hache JC, et al. Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene. Clin Neurophysiol 2003;114:1609–1614.
  5. Soykan I, McCallum RW. Gastrointestinal involvement in neurologic disorders: Stiff-man and Charcot-Marie-Tooth syndromes. The American Journal of the Medical Sciences 1997;313:70–73.
  6. Spechler SJ. American Gastroenterological Association medical position statement on treatment of patients with dysphagia caused by benign disorders of the distal esophagus. Gastroenterology 1999;117:229–232.
  7. Naniwadekar A, Mishra V, Sanjeevi A. Dysphagia in a patient with Charcot-Marie-Tooth disease: 544. Am J Gastroenterol 2009;104:S204.
  8. Wilkinson JM, Halland M. Esophageal motility disorders. Am Fam Physician 2020;102:291–296.
  9. American Gastroenterological Association medical position statement on management of oropharyngeal dysphagia. Gastroenterology 1999;116:452–454.
  10. Graham DY, Tansel A. Interchangeable use of proton pump inhibitors based on relative potency. Clin Gastroenterol Hepatol 2018;16:800–808.e7.

Published

2025-03-17

How to Cite

1.
Kloub M, Abusalim A-RI, Eldesouki M, Abushanab M, Okwesili B, Atiyat R, et al. Oesophageal dysmotility in a patient with Charcot-Marie-Tooth disease: report and literature review. EJCRIM [Internet]. 2025 Mar. 17 [cited 2026 Nov. 4];12(4). Available from: https://ejcrim.com/index.php/ejcrim/article/view/5219

Most read articles by the same author(s)