Oculopharyngeal muscular dystrophy (OPMD)
Oculopharyngeal muscular dystrophy (OPMD)
Oculopharyngeal muscular dystrophy (OPMD) affects the muscles of the eyes and throat. People with this condition usually begin noticing symptoms in their 40s or 50s.
Common Symptoms
⚠️ This symptom list is for educational purposes. Having these symptoms does not mean you have this condition. See a doctor for proper diagnosis.
Medicines Commonly Used
⚠️ These medicines are commonly used for confirmed diagnoses of this condition. This is NOT a recommendation or prescription. Treatment must be determined by your doctor.
No medicines have been linked to this condition yet.
Causes
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.
Diagnosis
A blood test can confirm OPMD by identifying the genetic abnormality in the mutated gene.
Treatment
There is no cure for OPMD, but the most common symptoms drooping eyelids, limb weakness and difficulty swallowing can be managed with treatment.
For droopy eyelids, a minor surgical procedure can lift the eyelids and improve your field of vision, while still allowing you to close your eyes normally.
If swallowing difficulty is mild, diet changes and speech therapy often help. If it is causing significant weight loss, a dietician may suggest food supplements.
In more severe cases, the ring of muscle at the top of the food pipe (the upper oesophageal sphincter) can block weak swallowing movements. Stretching this muscle, or cutting it in a procedure called cricopharyngeal myotomy, can help. A botulinum toxin (Botox) injection is a temporary option that can work in a similar way to surgery.
If swallowing problems do not improve with diet, speech therapy or surgery, there is a risk of food or liquid entering the lungs and causing aspiration pneumonia. Switching to a different feeding method can prevent this.
In that case, you may be offered a gastrostomy, a minor operation to pass a feeding tube through the front of the abdomen directly into the stomach. This may be done as a PEG (percutaneous gastrostomy) or a RIG (radiographically inserted gastrostomy).
A gastrostomy helps make sure you get enough nutrition and fluids, lowers the risk of aspiration pneumonia, and still lets you swallow small amounts of food or drink if you are able to. The tube can be hidden under clothing.
Bladder problems are common in people with muscle disorders like muscular dystrophy. You may experience urinary incontinence, accidentally leaking urine, often caused by weakness in the pelvic floor muscles combined with weak core muscles.
You are more likely to experience urinary incontinence if you have poor mobility or spend long periods sitting down.
Pelvic floor exercises can help, and medication can sometimes ease a sudden, urgent need to urinate.
You may also experience bowel problems such as ongoing constipation, sudden diarrhoea with little warning, or bowel incontinence. Drinking less water than recommended to avoid frequent toilet trips can lead to dehydration, which can worsen constipation and other bowel problems.
Taking a gentle laxative such as Lactulose regularly through the week may help.
Physiotherapy and walking aids can help with limb weakness, and occupational therapy can help you manage everyday activities.