Oculopharyngeal muscular dystrophy (OPMD)

Oculopharyngeal muscular dystrophy (OPMD) affects the muscles in the eyes (ocular) and the throat (pharyngeal). Someone with OPMD will usually start to experience symptoms in their 40’s or 50’s.

Symptoms of oculopharyngeal muscular dystrophy

The symptoms of OPMD are:

  • ptosis or droopy eyelids
  • dysphagia (problems with swallowing)
  • limb weakness in the muscles around the shoulders and hips
  • problems with eye movements

Although you might have droopy eyelids, your eyesight (vision) should not be affected. Even when the condition worsens, a person with OPMD could have normal vision if their eyelids are raised.

Worsening problems with swallowing (dysphagia) can cause problems swallowing fluids including saliva. There’s a danger of aspiration (food, drink or saliva going down the wrong way into the chest instead of the stomach). This increases the risk of chest infections (aspiration pneumonia).

Some people with OPMD experience muscle weakness first around the shoulders and then around the hips. This doesn’t usually happen until many years after the initial diagnosis. It’s usually mild but can progress to be more severe.

The life expectancy of someone with OPMD is close to normal if it’s managed well.

Causes of oculopharyngeal muscular dystrophy

OPMD is an autosomal dominant inherited type of MD.

If you have a dominant inherited MD, you only need to inherit the altered gene from one parent to be affected.

This means, if you have a child with an unaffected partner there’s still a 1 in 2 chance your child will develop the condition.

If you have a parent with OPMD you might want to find out if you’re likely to develop the condition. You might want to consider having a genetic test. You’ll be offered counselling if you’re considering genetic testing.

If you do find out you have inherited the condition, it’s impossible to predict when you’ll develop symptoms.

Diagnosing oculopharyngeal muscular dystrophy

A blood test can confirm if you have OPMD. The test identifies the genetic abnormality in the mutated gene.

Treating oculopharyngeal muscular dystrophy

There is no cure for OPMD. There are treatments available for the the most common OPMD symptoms of ptosis, limb weakness and dysphagia.

Treatment for ptosis

There’s a minor surgical procedure you can have to lift the eyelids to treat droopy eyelids caused by OPMD.

The procedure will try to restore your field of vision while still allowing the eyelids to close.

Treatment for dysphagia

If your dysphagia is mild, it can sometimes be helped by diet and speech therapy. If dysphagia is causing you to lose too much weight, a dietician might suggest you take food supplements.

In more severe cases of dysphagia, the upper oesophageal sphincter (gullet) can obstruct weak swallowing. Stretching the muscle or cutting it in a procedure called cricopharyngeal myotomy can help. A botulinum toxin (Botox) injection is a temporary measure that can have a similar effect as the surgical procedure.

If your dysphagia is not responding to the initial treatments options like diet, speech therapy and surgical treatments, there’s a risk of aspiration pneumonia. This can be prevented by using a different method of feeding.

If this is the case, you might have gastrostomy. This involves a minor operation to pass a tube through the front of the abdomen (tummy) directly into the stomach. This might be a PEG (percutaneous gastrostomy) or a RIG (radiographically inserted gastrostomy).

A gastrostomy ensures you’re getting enough nutrition and hydration. It reduces the chance of aspiration pneumonia and still allows you to swallow small amounts of food and drink if you’re able to. A PEG or RIG can be hidden under clothes.

Limb weakness

Physiotherapy and walking aids might help with limb weakness. Occupational therapy can help you to manage your daily activities.

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Last updated:
12 April 2023