What is oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition. It causes weakness in the muscles around the upper eyelids and part of the throat called the pharynx. The condition may harm vision and cause problems swallowing and talking.  

OPMD affects both men and women. It often first appears between 40 and 60 years of age. As the disease slowly progresses, the muscle weakness can extend into the neck and shoulders. In time, OPMD may affect the arms and legs and lead to trouble with walking. OPMD generally does not shorten a person’s life span. 

What causes oculopharyngeal muscular dystrophy?

OPMD is caused by a genetic defect. The defect is in a gene that has the information needed to make a substance called polyadenylate-binding protein or PABPN1. The defect leads to buildup of PABPN1 in the muscle cells. The PABPN1 clumps inside the muscle cells and may cause the cells to die. This leads to muscle weakness. 

The defective gene that causes OPMD is passed down from a parent to his or her child. Most often, a person with the disease has only one copy of the gene defect. In some cases, a person might get two copies of the gene, one from each parent. This may lead to more severe OPMD and faster progression. OPMD is more common in: 

  • People of French-Canadian descent 
  • Hispanic people living in northern New Mexico 
  • Ashkenazi Jewish people 

OPMD also happens in people who are not part of these groups. 

What are the symptoms of oculopharyngeal muscular dystrophy?

OPMD usually first affects people in their 40s and 50s. The condition generally affects the muscles in the upper eyelids and throat. You may first notice drooping eyelids or trouble swallowing. Most of the time, OPMD progresses very slowly. Common symptoms include: 

  • Eyelid drooping. This may be severe enough to need special glasses (to brace the eyelids open) or surgery (to raise the eyelids). 
  • Choking or swallowing problems (dysphagia). Dry foods may be the first to cause trouble, but swallowing liquids can later be a challenge. 
  • Tongue shrinking 
  • Pooling of saliva 
  • Facial muscle weakness 
  • Leg and arm weakness 

About 5% to 10% of people with OPMD may develop more severe upper leg weakness that may eventually require wheelchair use. 

How is oculopharyngeal muscular dystrophy diagnosed?

Doctors take your medical history, asking about your recent symptoms, past medical conditions, and family medical history. The doctor will do a thorough physical exam, including checking the muscles around your eyes. Your ability to swallow may be tested. Your testing may include: 

  • DNA tests (blood tests) to look for gene defects 
  • Timed swallowing tests 
  • Video studies of swallowing  
  • Electromyography (EMG) 
  • Muscle biopsy to look for OPMD PABPN1 clumps (often not needed if the genetic tests are clear) 
  • Blood tests to help rule out other conditions 

You may first see your main doctor and then get a referral to a neurologist. Some neurologists specialize in neuromuscular diseases such as OPMD. A speech-language pathologist (SLP) may help with speech and swallowing problems related to OPMD. 

How is oculopharyngeal muscular dystrophy treated?

Treatment for OPMD focuses on helping the swallowing problems, eyelid drooping, or limb weakness  

Because the tongue and throat muscles are weak in OPMD, moving food from your mouth into your esophagus becomes tricky. This can cause choking and breathing food into your lungs, which may lead to dangerous pneumonia. Changing the consistency of your foods may make them easier to swallow. In some cases, procedures to help make swallowing safer and more comfortable may help. 

One such procedure widens the opening in a muscle just above the top of your esophagus. The aim is to make it easier for food to move past this muscle into your esophagus. A doctor can widen the muscle with a dilating tool. Or, by injecting a substance called Botox into the muscle to help relax it. This procedure only helps in the short term. You may need to have it repeated. A surgical cut into the muscle can be a more permanent solution for swallowing problems. In some cases, you may need to bypass the throat completely and use a feeding tube instead. 

Surgery may also help correct severe eyelid drooping. Drooping eyelids can interfere with vision, driving and other activities. Eyelid surgery (blepharoplasty) or tightening the muscle that lifts the eyelid may help. In some cases, a sling can attach the eyelid to the forehead muscle to help keep the lid open. 

Occupational therapy can help you find ways to adapt to arm and leg weakness. You may benefit from leg braces, canes, or walkers. 

What are the complications of oculopharyngeal muscular dystrophy?

In severe OPMD, upper leg weakness may require you to use a wheelchair. This is rare, though. 

The main complications of OPMD have to do with swallowing problems (dysphagia). This can lead to weight loss and nutrition problems. It can also cause choking and the breathing of food, saliva, liquids, or stomach contents into the lungs (aspiration). This can lead to infections and cause pneumonia, which can be fatal. You may need a procedure to reduce the risk of aspiration. 

How to manage oculopharyngeal muscular dystrophy

OPMPD usually develops after age 40 and progresses slowly. An SLP can teach you ways to deal with speech or swallowing problems. These may include swallowing techniques and communication strategies. An occupational therapist can help you with adaptive techniques for daily tasks. You may also find a cane, walker, or other walking aids to be helpful if the OPMD progresses to the leg muscles. 

It’s particularly important to work with your medical team to address any swallowing issues. Strategies such as changing the consistency of the food, taking smaller bites, or holding your head in certain ways while swallowing may be helpful. You may need to undergo a procedure to make swallowing safer and more comfortable. 

People with OPMD and their families may find support from organizations such as the Muscular Dystrophy Association (www.mda.org). 

Key points about oculopharyngeal muscular dystrophy

OPMD is a rare genetic condition. It causes weakness in the muscles around the upper eyelid and throat. Other muscle groups may also become involved over time. The disease usually gets worse slowly and does not affect normal life span. Other key facts about OPMD include: 

  • OPMD affects both men and women, usually first appearing in people after 40 years of age. 
  • The first symptoms are eyelid drooping and trouble swallowing. 
  • The swallowing problems increase the risk for potentially fatal aspiration pneumonia. 
  • OPMD can cause changes to your voice. 
  • OPMD also may affect other muscles in the shoulders, arms, and legs. 
  • OPMD results from a defect that leads to the presence of clumps of PABPN1 in muscle cells. 
  • You may need procedures to help with swallowing or other problems related to OPMD. 
  • Your health care team can help you with adaptive techniques to deal with the condition. 

Next steps

Tips to help you get the most from a visit to your healthcare provider:

  • Know the reason for your visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • Bring someone with you to help you ask questions and remember what your provider tells you.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
  • Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
  • Ask if your condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if you do not take the medicine or have the test or procedure.
  • If you have a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your provider if you have questions.