Oesophageal Dysmotility in a Patient with Charcot-Marie-Tooth Disease: Report and Literature Review.

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.

Learning points: Charcot-Marie-Tooth disease has the potential to involve smooth muscles, including those of the diaphragm and gastrointestinal tract.Regular and detailed evaluation of respiratory and swallowing functions is advised for patients with neurological disorders to monitor for early signs of dysfunction.Aspiration pneumonia should always be in the differential in patients with recurrent pneumonia and warrants thorough evaluation to ensure appropriate diagnosis and management.