Oculopharyngeal Muscular Dystrophy (OPMD)

Signs and Symptoms

Symptoms of oculopharyngeal muscular dystrophy (OPMD) usually do not begin until the mid-40s or 50s but can occur earlier. A person with OPMD may first notice drooping eyelids (a condition known as ptosis), which gradually leads to tipping the head backward to see properly.

Besides droopy eyelids, patients might first notice that they tend to choke frequently and may have difficulty swallowing (called dysphagia).

In the autosomal dominant form of OPMD (inherited from one parent), initial symptoms typically occur between 43 to 60 years of age. In the recessive form of OPMD (inherited from both parents), initial symptoms typically occur after age 60.¹

Other symptoms associated with OPMD include tongue weakness (82% of patients), proximal lower extremity weakness (muscle weakness from the hips down to the toes; 71% of patients), wet voice due to pooling saliva (67% of patients), limitation of upward gaze (61% of patients), facial muscle weakness (43% of patients), and proximal upper extremity weakness (weakness above the hips and into the arms; 38% of patients).¹

References

1. Trollet C, Gidaro T, Klein P, et al. Oculopharyngeal Muscular Dystrophy. 2001 Mar 8 [Updated 2014 Feb 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.