Oculopharyngeal muscular dystrophy (OPMD)

Oculopharyngeal muscular dystrophy (OPMD) is a condition that affects the muscles of the eyes (that's the "ocular" part) and the throat (the "pharyngeal" part). Symptoms usually begin when a person is in their 40's or 50's.

The symptoms of oculopharyngeal muscular dystrophy (OPMD) are:

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

You might have droopy eyelids, but your eyesight (vision) shouldn't be affected. Even when the condition gets worse, a person with OPMD could still see normally if their eyelids are raised.

As the swallowing problems (dysphagia) get worse, it can become hard to swallow fluids, including saliva. There's a danger of aspiration, which means food, drink or saliva going down the wrong way into the chest instead of the stomach. This raises the risk of chest infections (aspiration pneumonia).

Some people with OPMD notice muscle weakness first around the shoulders and then around the hips. This doesn't usually happen until many years after the first diagnosis. It's usually mild, but it can become more severe over time.

If OPMD is managed well, a person's life expectancy is close to normal.

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant inherited type of muscular dystrophy. With a dominant inherited muscular dystrophy, you only need to inherit the altered gene from one parent to be affected.

This means that if you have a child with a partner who is unaffected, there's still a 1 in 2 chance your child will develop OPMD.

If one of your parents has OPMD, you might want to find out if you're likely to develop it too. You could consider having a genetic test, and you'll be offered counselling if you decide to go ahead with testing.

If you do find out you've inherited the condition, it's impossible to predict when you'll start to have symptoms.

A blood test can confirm whether you have oculopharyngeal muscular dystrophy (OPMD). It picks up the genetic abnormality in the mutated gene.

There is no cure for oculopharyngeal muscular dystrophy (OPMD). But the most common symptoms, which are ptosis, limb weakness and dysphagia, can be treated.

A minor surgical procedure can lift the eyelids and treat the droopy eyelids caused by OPMD. It tries to restore your field of vision while still letting the eyelids close.

If your dysphagia is mild, diet and speech therapy can sometimes help. If it's making you lose too much weight, a dietician might suggest food supplements.

In more severe cases, the upper oesophageal sphincter (gullet) can block weak swallowing. Stretching the muscle, or cutting it in a procedure called cricopharyngeal myotomy, can help. A botulinum toxin (Botox) injection works as a temporary measure and can have a similar effect to the surgery.

If your dysphagia doesn't respond to the first treatments, such as diet, speech therapy and surgery, there's a risk of aspiration pneumonia. A different method of feeding can prevent this.

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

A gastrostomy gets you enough nutrition and hydration. It lowers the chance of aspiration pneumonia, and you can still swallow small amounts of food and drink if you're able to. A PEG or RIG can be hidden under clothes.

Bladder problems are common in people with muscle disorders like muscular dystrophy.

You might have urinary incontinence, where you pass urine by accident. It's often caused by weak pelvic floor muscles combined with weak core muscles.

You're more likely to have urinary incontinence if you:

• have poor mobility
• spend a lot of time sitting down

Pelvic floor exercises may help. An urgent need to pass urine can sometimes be helped with medicine.

You might also have bowel problems like:

• chronic constipation
• diarrhoea with little warning
• bowel incontinence

Some people drink less water than is recommended so they won't need the toilet during the day. This can cause dehydration, which can make constipation worse and add to bowel problems.

Using a gentle laxative like Lactulose regularly during the week may help. Medicine can sometimes help too.

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