OPMD Awareness Day Date in the current year: September 23, 2026

Muscular dystrophy is an umbrella term for a group of rare genetic disorders caused by mutations in various genes. These disorders are grouped together based on their main clinical manifestation: progressive weakness and breakdown of skeletal muscles. Some types cause general muscle weakness, while others, like OPMD, target specific muscle groups.

As its name suggests, oculopharyngeal muscular dystrophy affects the eyelids (ocular) and the throat (laryngeal). This condition is caused by mutations in the PABPN1 gene and can be inherited in an autosomal dominant or autosomal recessive manner. The autosomal dominant pattern of inheritance is significantly more common.

Regardless of the pattern of inheritance, OPMD is an extremely rare condition, even among the already rare group of muscular dystrophies. It has been diagnosed on five continents and is more prevalent among French Canadians, possibly due to the founder effect.

OPMD is a late-onset disease, with the first symptoms typically appearing around the age of 40-50. Common symptoms include drooping eyelids (ptosis), difficulty swallowing (dysphagia), tongue weakness, limited eye movement, speech impairment, and facial weakness. Some patients also develop weakness in the proximal muscles (hips, shoulders, and upper legs), which can eventually require the use of a cane, walker, braces, or wheelchair for mobility. However, limited mobility is less concerning than dysphagia, which can lead to malnutrition, aspiration pneumonia, or choking.

Like all muscular dystrophies, OPMD is incurable, and there is no specific treatment to eliminate the symptoms or stop their progression. Management focuses on alleviating symptoms and preventing life-threatening complications as much as possible. This may include occupational or physical therapy for proximal muscle weakness, speech therapy for dysphagia and speech impairment, blepharoplasty for ptosis, and Botox injections into the throat muscles to improve swallowing, though the effects are temporary.

In severe cases, a surgery called cricopharyngeal myotomy is sometimes used. This surgery involves cutting a muscle near the esophagus to improve swallowing. However, it usually only provides temporary benefits. Some patients will eventually require enteral nutrition to prevent malnutrition and dehydration.

OMPD itself does not shorten life expectancy, but the condition can be fatal in severe cases, especially when management is poor. The most common causes of death are malnutrition and aspiration pneumonia.

OPMD Awareness Day is spearheaded by the OPMD Association, a U.S.-based nonprofit advocacy organization working to raise awareness of OPMD and promote research. The easiest way to participate is to take a selfie wearing blue and gold (the colors of the OPMD awareness ribbon) and post it on social media with the hashtags #OPMD, #OculopharyngealMuscularDystrophy, #OPMDAwareness, #OPMDAwarenessDaySept23, and #OPMDAwarenessDay.