Oculopharyngeal Muscular Dystrophy

What is oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disease that leads to muscle weakness. You usually develop symptoms in adulthood, around age 40 or 50, even though you’re born with the gene change that causes OPMD. The symptoms of OPMD are progressive, meaning they worsen over time. But your symptoms usually progress slowly.

OPMD is a type of muscular dystrophy. Muscular dystrophies are inherited diseases that cause muscle weakness. This type of muscular dystrophy is “oculopharyngeal” because it causes muscle weakness that affects your:

• Eyelids (ocular).
• Throat (pharyngeal).

How many people have oculopharyngeal muscular dystrophy?

Experts don’t know exactly how many people have OPMD. But they estimate that OPMD affects between 3,000 and 30,000 people in the United States.

Who does oculopharyngeal muscular dystrophy affect?

Oculopharyngeal muscular dystrophy may affect anyone, although it’s most common in:

• Bukharan Jewish people of Israel, affecting around 1 in 700 people.
• French-Canadian people of Quebec, affecting around 1in 1,000 people.

What are the symptoms of oculopharyngeal muscular dystrophy?

OPMD affects your eyes and throat. Weakness in your eyelids and throat muscles may cause:

• Difficulty speaking (dysphonia).
• Difficulty swallowing (dysphagia).
• Double vision (diplopia).
• Drooping eyelids (ptosis).
• Facial weakness.
• Impaired vision and limited eye movement.
• Weakness or atrophy in your tongue.

People with OPMD also frequently have symptoms that affect the muscles in the center of their body (proximal muscles). In particular, OPMD may affect your:

• Hips.
• Shoulders.
• Upper legs.

You may need to use an assistive device such as a cane or a walker, as weakness worsens in your proximal muscles. About 1 in 10 people with OPMD eventually need to use a wheelchair.

What if I develop symptoms of OPMD earlier than expected?

Very rarely, you may have a severe form of OPMD that causes severe muscle weakness before age 45. In these cases, you usually have difficulty walking on your own by age 60. You may also have:

• Depression.
• False beliefs that seem true to you (delusions).
• Gradual loss of thinking abilities (cognitive decline).
• Problems with your nerve function (neuropathy).

What causes oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy is a genetic disorder, meaning it occurs because of a gene change (mutation) that’s present at birth. The gene mutation that causes OPMD occurs in your PABPN1 gene. You inherit the PABPN1 gene mutation from one or both of your parents. Most people who have OPMD have one parent with OPMD.

Most genes come in pairs, and your DNA contains two copies of the PABPN1 gene. You only need to have the gene mutation in one copy of your PABPN1 gene to develop oculopharyngeal muscular dystrophy. However, some people have the mutation in both copies of their PABPN1 gene. People with mutations in both PABPN1 gene copies usually have more severe OPMD symptoms developing earlier in life.

How is oculopharyngeal muscular dystrophy diagnosed?

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

You may also have tests such as:

• Electromyograms: These tests usually include nerve conduction studies and needle electrode examination to assess how your muscles respond to nerve signals.
• Muscle biopsies: These tests take a small sample of muscle tissue. Your provider may use a muscle biopsy to look for the PABPN1 gene mutation if blood tests aren’t clear.
• Swallowing tests: These tests check for problems in your throat muscles that could be causing dysphagia.

How is oculopharyngeal muscular dystrophy treated?

Treatment for oculopharyngeal muscular dystrophy (OPMD) varies depending on your symptoms and how severe they are. Treatment may include:

• Occupational or physical therapy: Working with a therapist may help you build strength and participate in your usual activities. Your therapist may recommend devices such as canes, leg braces or walkers if muscle weakness affects your walking and movement abilities.
• Speech therapy: A speech-language pathologist can help you with swallowing and speaking problems related to OPMD. You may take smaller bites, position your head differently or modify your diet to reduce swallowing problems.
• Botulinum toxin injections: A provider may inject botulinum toxin into one of the muscles at the top of your throat. This temporarily relaxes the muscle so you can swallow more easily. You may need injections every few months for lasting results.
• Blepharoptosis repair: A provider may recommend plastic surgery to correct eyelid drooping. A blepharoptosis repair raises your eyelids so you can see better.
• Cricopharyngeal myotomy: A surgeon makes an incision in your cricopharyngeal muscle, a muscle in your throat just above your esophagus. This helps your throat muscles remain relaxed so food passes into your esophagus more easily.
• Tube feeding (enteral nutrition): A feeding tube may be an appropriate treatment if you have severe swallowing problems. A provider inserts the tube through your nose or belly, which provides nutrients directly to your intestines or stomach. A feeding tube gives you nutrition while bypassing your throat completely.

Are there clinical trial treatments for oculopharyngeal muscular dystrophy?

Yes. You may ask your healthcare provider if you qualify for clinical trial treatments for OPMD. Your provider may offer additional types of injections to relieve OPMD symptoms. Researchers are still studying the long-term effectiveness of these treatments.

How can I prevent oculopharyngeal muscular dystrophy?

Because oculopharyngeal muscular dystrophy is an inherited condition, there’s no way to prevent getting it.

If you have a parent with OPMD, you may consider genetic testing. A genetic test looks for the gene mutation that causes OPMD. A genetic counselor discusses your test results with you and helps you understand the risks of passing OPMD or other inherited conditions to your children.

What is the outlook for oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy can affect your quality of life, but it doesn’t usually affect your lifespan. Treatment can help you manage symptoms and reduce your risk of complications.

What are the possible complications of oculopharyngeal muscular dystrophy?

The main potential complication of OPMD has to do with swallowing problems. The weakness in your tongue and throat can lead to difficulty eating, which increases your risk of:

• Aspiration pneumonia.
• Choking.
• Malnutrition.

Speak with your healthcare provider about treatment options if you have dysphagia related to oculopharyngeal muscular dystrophy. You may need to modify your eating habits to reduce your risk of complications.

What questions should I ask my doctor?

If you have oculopharyngeal muscular dystrophy or think you could, you may want to ask your healthcare provider:

• What are the early signs of oculopharyngeal muscular dystrophy?
• How do you diagnose oculopharyngeal muscular dystrophy?
• What are the treatment options for oculopharyngeal muscular dystrophy?
• What are the possible complications of oculopharyngeal muscular dystrophy?
• What are the chances that I’ll pass oculopharyngeal muscular dystrophy to my children?

Can oculopharyngeal muscular dystrophy cause death?

Oculopharyngeal muscular dystrophy itself doesn’t typically affect your lifespan. But untreated throat muscle weakness may increase your risk of choking or aspiration pneumonia, which can be life-threatening.

Does OPMD cause fatigue?

Oculopharyngeal muscular dystrophy can lead to fatigue. Fatigue isn’t one of the primary symptoms of OPMD, but it’s common in people with the condition. One study found that around half of all people with oculopharyngeal muscular dystrophy experienced fatigue that interfered with their day-to-day activities.

What conditions cause similar symptoms as oculopharyngeal muscular dystrophy?

Some conditions may cause symptoms that appear similar to OPMD, including:

• Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES): This is an inherited disorder that causes narrow eyelids and eyelid drooping.
• Chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome): This is a rare neuromuscular condition that affects your eyes and your heart.
• Myasthenia gravis: This autoimmune disease causes muscle weakness and fatigue.
• Oculopharyngodistal myopathy: This is a disease that causes many of the symptoms of OPMD along with respiratory problems and possible hearing loss.

A note from Cleveland Clinic

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition that causes muscle weakness in your eyelids and throat. You may not know you have OPMD until later in life — most people develop their first symptoms after age 40. As soon as you notice OPMD symptoms, see your healthcare provider. They can run tests to diagnose OPMD and offer treatments to help you manage symptoms. Oculopharyngeal muscular dystrophy worsens slowly over time, although it doesn’t affect your lifespan. With treatment, you can live a high quality of life.