Swallowing markers in spinal and bulbar muscular atrophy.

OBJECTIVE

We examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis.

METHODS

A videofluoroscopic swallowing study was performed on 111 consecutive patients with genetically confirmed spinal and bulbar muscular atrophy and 53 age- and sex-matched healthy controls. Swallowing of 3-mL liquid barium was analyzed by the worksheet.

RESULTS

Of more than 40 radiographic findings, the most pertinent abnormal findings in patients with spinal and bulbar muscular atrophy, included (residue just behind the tongue base) and ( < 0.001 for each) compared with healthy controls. Quantitative analyses showed that and the were significantly worse in these patients ( ≤ 0.005 for each) than in controls. In patients with spinal and bulbar muscular atrophy, was observed more frequently in those without subjective dysphagia.

INTERPRETATION

Dysphagia of spinal and bulbar muscular atrophy was characterized by impaired tongue movement in the oral phase and nasal penetration followed by pharyngeal residues, which resulted in multiple swallowing sessions and laryngeal penetration. Although major limitations of reproducibility and radiation exposure still exist with videofluoroscopy, and the might serve as potential outcome measures in clinical studies.