Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. Only about 10% of ALS patients survive more than 10 years. Clinical studies show that multidisciplinary care statistically significantly improves survival compared to neurological care. ALS tends to manifest as limb weakness, but some patients present with bulbar symptoms, such as dysphagia and dysarthria. In rarer cases, the main symptom of ALS is oropharyngeal dysphagia. Respiratory muscle weakness is a relatively rare symptom at the onset of this disease and may lead to a fatal outcome due to aspiration pneumonia within about 1.4 years. These reasons led to a particularly complicated diagnosis of ALS in a 66-year-old Caucasian female patient complaining of dyspnoea and coughing while drinking water. Notably, dyspnoea is only present in one out of four treatment-seeking patients, and the course of ALS is non-specific. For these reasons, the diagnosis took an entire year while the patient underwent many tests and visited many specialists. However, the diagnosis was only made at a late stage of the disease. At present, the patient is almost unable to swallow food, water, or saliva, and is at a very high risk of aspiration, but refuses to have a percutaneous endoscopic gastrostomy performed. The objective of this case report is to highlight the fact that a symptom as simple as difficulty swallowing may be the result of severe disease, a frequent outcome of which is death.
Keywords: amyotrophic lateral sclerosis; fiberoptic endoscopic evaluation of swallowing; motor neuron disease; older patients; oropharyngeal dysphagia.