Surgery in oculopharyngeal muscular dystrophy

Area of Science:

• Genetics
• Neurology
• Gastroenterology

Background:

• Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant genetic disorder.
• OPMD primarily affects individuals of French Canadian descent.
• Patients commonly present with oropharyngeal dysphagia and aspiration.

Purpose of the Study:

• To evaluate the clinical, manometric, and radiological effects of cricopharyngeal myotomy in OPMD patients.
• To assess the impact of surgery on pharyngeal and upper esophageal sphincter (UES) function.

Main Methods:

• Clinical assessment, pharyngeal manometry, and radiological evaluation were performed before and after cricopharyngeal myotomy in 15 OPMD patients.
• UES function, including resting pressure, contraction pressure, relaxation time, and coordination, was analyzed.
• Comparison was made with a control group.

Main Results:

• Pharyngeal contraction pressure, duration, and frequency showed significant differences compared to controls but were unaffected by surgery.
• UES relaxation time was significantly abnormal in OPMD patients compared to controls.
• Cricopharyngeal myotomy significantly reduced UES resting and contracting pressures and normalized relaxation time.

Conclusions:

• Cricopharyngeal myotomy effectively improves swallowing symptoms in OPMD patients.
• The primary benefit of surgery appears to be normalization of UES relaxation time.
• Pharyngeal function remains largely unchanged post-surgery.