Oculopharyngeal Muscular Dystrophy (OPMD)

Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset genetic muscle disorder, usually inherited in an autosomal dominant pattern, and characterized by progressive weakness of the eyelid and throat muscles. One of the earliest signs is difficulty swallowing (dysphagia), typically beginning between ages 40 and 60.

How Swallowing Normally Works (simplified version)

• The cheeks, tongue, and pharyngeal muscles act like a baseball pitcher, propelling food forward/downward to the opening of the esophagus..
• The cricopharyngeus (CP) muscle, a sphincter between the lower pharynx and upper esophagus, acts like the catcher. Just as a catcher’s mitt must open to receive the ball, the CP muscle must relax to allow food into the esophagus.

What Happens in OPMD

In OPMD, both the pitcher (pharynx) and the catcher (CP) may weaken.  Counterintuitively, CP weakness often means it doesn’t relax or open fully. This makes swallowing solid foods difficult before liquids or purées, since softer  textures can still “sneak through” a narrowed opening.

Diagnosis and Treatment

A videofluoroscopic swallow study (X-ray swallow test) is the best way to evaluate both propulsion and CP muscle opening. If propulsion is reasonably preserved but the CP muscle fails to relax adequately, a laser cricopharyngeal myotomy may help.

This is an OR procedure under brief general anesthesia, most commonly with a one-night stay in hospital. This procedure reconfigures the “O” of the sphincter into a “U,” eliminating the pinch point that impedes solid food passage.

If propulsion remains fairly strong and the CP muscle is the main culprit, swallowing may be markedly improved. If the pharynx weakness is also considerable, improvement may be modest but still worthwhile, together with swallowing therapy and management of food choices.

As always, treatment decisions must be individualized.