Symptoms Oculopharyngeal muscular dystrophy (OPMD)

People with OPMD do not usually develop symptoms until after the age of 40, with an average age of onset of around 50.

The first sign of the condition is either ptosis, or dysphagia (difficulty swallowing). Very slowly, over many years, these problems worsen.

The increasing ptosis may lead to the eyelid covering the pupil and so obstructing vision. In an effort to compensate for this, the forehead muscles become overactive, trying to help lift up the eyelids. People with OPMD often adopt a rather characteristic posture with the head tilted backwards to see clearly. However, the eye itself is not affected, and even when the condition is advanced, people with OPMD have normal vision if the eyelids are raised.

Dysphagia, which initially mainly affects swallowing solid and dry foods, progresses slowly. Eventually even swallowing fluids, including saliva, may become a problem. If dysphagia is severe, there is a danger of aspiration (food, drink or saliva ‘going down the wrong way’ into the chest rather than stomach), which increases the risk of a chest infection (aspiration pneumonia).

Many years after the onset of the condition, people with OPMD may become aware of limb weakness, often first around the shoulders and later around the hips. This is often relatively mild but can progress to be more severe and disabling, many years after the first onset of symptoms. Life-expectancy, with modern management of the condition, is close to normal.