Silent dysphagia in two patients with Steinert disease and recurrent respiratory exacerbations

Area of Science:

• Neurology
• Pulmonology
• Gastroenterology

Background:

• Myotonic dystrophy type 1 (DM1) is a multisystem disorder.
• Respiratory complications are common in DM1 patients.
• The etiology of respiratory exacerbations in DM1 can be multifactorial.

Observation:

• Two DM1 patients presented with frequent respiratory exacerbations and pneumonia.
• These patients had no prior history of asthma, allergies, bronchopathy, or dysphagia.
• Videofluoroscopic swallow study (VFSS) was performed to investigate the cause.

Findings:

• VFSS identified post-swallowing aspiration phenomena in both patients.
• Aspiration was directly linked to the observed respiratory exacerbations.
• This suggests an unrecognized swallowing dysfunction contributing to pulmonary issues.

Implications:

• Overt or subtle dysphagia and aspiration may be underdiagnosed in DM1.
• Early identification of swallowing difficulties is crucial for managing respiratory health in DM1.
• Integrating VFSS into routine care for DM1 patients could prevent severe respiratory complications.