Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition that causes weakness in the muscles around the upper eyelids and part of the throat called the pharynx. The condition may affect vision and cause problems swallowing and talking. OPMD affects both men and women. It often first appears between 40 and 60 years of age. As the disease slowly gets worse, the muscle weakness can extend into the neck and shoulders. In time, OPMD may affect the arms and legs and lead to trouble with walking.
Some common symptoms of OPMD include:
Eyelid drooping. This may be severe enough to need special glasses to brace the eyelids open or surgery to raise the eyelids.
Choking or swallowing problems (dysphagia). Dry foods may be the first to cause trouble. But swallowing liquids can later be a challenge.
Tongue shrinking
Pooling of saliva
Facial muscle weakness
Leg and arm weakness
Diagnostic testing recommended by a physician may include:
DNA tests (blood tests) to look for gene defects Video studies of swallowing
Nerve conduction studies and electromyography (EMG)
Muscle biopsy (which is often not needed if the genetic tests are clear)
Blood tests to help rule out other conditions
The primary care physician may recommend a referral to a neurologist. Some neurologists specialize in neuromuscular diseases such as OPMD.