Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition that causes muscle weakness. Even though you’re born with it, symptoms usually don’t appear until you’re around 40 or 50. The symptoms get worse over time, but they tend to progress slowly.

OPMD is a type of muscular dystrophy — a group of inherited conditions that cause muscle weakness. This specific type affects your:

• Eyelids (ocular)
• Throat (pharyngeal)

Fewer than 50,000 people in the U.S. are estimated to have OPMD.

Symptoms of oculopharyngeal muscular dystrophy

OPMD mostly affects your eyes and throat. Common symptoms, in order of how often they appear, include:

• Drooping eyelids
• Difficulty swallowing
• Weakness or shrinking of your tongue
• Limited eye movement, especially upward
• Difficulty speaking
• Facial weakness

You may also develop weakness in the muscles near the center of your body (proximal muscles), usually after eye and throat symptoms. This can affect your:

• Hips
• Shoulders
• Upper legs

If the weakness gets worse, you might need a cane or walker. About 1 in 10 people with OPMD eventually use a wheelchair.

Oculopharyngeal muscular dystrophy causes

OPMD is a genetic condition caused by a change (mutation) in the PABPN1 gene. You’re born with this gene change and usually inherit it from one parent who also has OPMD.

You have two copies of most genes, including PABPN1. You only need a change in one copy to develop the condition. If both copies are affected, symptoms may start earlier and be more severe.

Complications of oculopharyngeal muscular dystrophy

The most serious complication is trouble swallowing. Weak tongue and throat muscles can lead to:

• Aspiration pneumonia
• Choking
• Malnutrition

Talk to your provider if you’re having trouble swallowing. You may need to change how you eat to avoid these complications.

How doctors diagnose oculopharyngeal muscular dystrophy

Your provider may suspect OPMD based on your symptoms. They usually confirm the diagnosis with a blood test that looks for a mutation in your PABPN1 gene.

Other tests may include:

• Electromyogram: Shows how your muscles respond to nerve signals.
• Muscle biopsy: Removes a small sample of muscle to look for signs of the gene change if blood tests aren’t clear.
• Swallowing tests: Check how well your throat muscles work and help explain any swallowing problems.

How is oculopharyngeal muscular dystrophy treated?

There’s no cure or targeted treatment for OPMD, but symptoms can be managed. Treatment depends on which symptoms you have and how severe they are. Options range from least to most invasive:

• Occupational or physical therapy: A therapist can help you stay active and build strength. They may also suggest canes, leg braces or walkers if muscle weakness affects how you move.
• Speech therapy: A speech-language pathologist (SLP) can help with swallowing and speech. You may learn to take smaller bites, adjust your head position or change the foods you eat.
• Botulinum toxin injections: These can be injected into a throat muscle to help you swallow more easily. The effects are temporary, so you may need repeat injections.
• Blepharoptosis repair: A surgery (called blepharoplasty) can lift drooping eyelids and improve your vision.
• Cricopharyngeal myotomy: A surgeon cuts a muscle near your esophagus to help food pass more easily. Sometimes, this is done using a balloon to widen the area instead of surgery.
• Tube feeding (enteral nutrition): If swallowing is severely affected, a feeding tube may be placed through your nose or belly to send nutrients directly to your stomach.

Are there clinical trial treatments for this condition?

Yes. Ask your provider if you qualify for clinical trials. Some involve new types of injections to relieve symptoms. Researchers are still studying how well these treatments work long-term.

When should I see my healthcare provider?

See your provider if you think you have OPMD or if your symptoms get worse.

What questions should I ask my healthcare provider?

Here are some questions you might want to ask your healthcare provider:

• What are the early signs of OPMD?
• How could it affect my daily life?
• What treatment do you recommend?
• How often should I come in for follow-ups?
• How will I know if it’s getting worse?
• Can I pass OPMD to my children?

What can I expect if I have oculopharyngeal muscular dystrophy?

OPMD can affect your quality of life, but it usually doesn’t shorten it. There’s no cure, but treatment can help manage symptoms and lower your risk of complications.