Oculopharyngeal Muscular Dystrophy (OPMD)
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 affect vision and cause problems swallowing and
affects both men and women. It often first appears between 40 and 60 years of age. As
the disease slowly gets worse, 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?
is caused by a genetic problem. The problem is in a gene that has the information needed
to make a protein called polyadenylate-binding protein (PABPN1). The defect leads to a
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.
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. The disease will get worse more quickly. OPMD is more common in:
OPMD also happens in people who are not part of these groups.
What are the symptoms of oculopharyngeal muscular dystrophy?
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 gets worse very slowly. Common symptoms
drooping. This may be severe enough to need special glasses to brace the eyelids open
or surgery to raise the eyelids.
or swallowing problems (dysphagia). Dry foods may be the first to cause trouble. But
swallowing liquids can later be a challenge.
Pooling of saliva
Facial muscle weakness
Leg and arm weakness
About 1 in 25 to 1 in 10 people with OPMD may develop more severe upper leg weakness.
They may need to use a wheelchair.
How is oculopharyngeal muscular dystrophy diagnosed?
doctor will take your health history, and ask about your recent symptoms, past health
conditions, and family health history. The doctor will do a thorough physical exam,
including checking the muscles around your eyes. The provider may test how well you can
swallow. Your test may include:
DNA tests (blood tests) to look for gene defects
Timed swallowing tests
Video studies of swallowing
conduction studies and electromyography (EMG)
biopsy to look for OPMD PABPN1 clumps. This is often not needed if the genetic tests
Blood tests to help rule out other conditions
may first see your main doctor and then get a referral to a neurologist. Some
neurologists specialize in neuromuscular diseases such as OPMD.
How is oculopharyngeal muscular dystrophy treated?
Treatment for OPMD focuses on helping the swallowing problems, eyelid drooping, or limb
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. This may lead to pneumonia. Changing the texture of your foods may make them
easier to swallow. In some cases, procedures to help make swallowing safer and more
comfortable may help.
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 they can widen it by injecting botulinum
toxin 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.
benefits from both of these treatments may last for only several years.
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 possible complications of
oculopharyngeal muscular dystrophy?
In severe OPMD, upper leg weakness may require you to use a wheelchair. This is rare, though.
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 for aspiration. Most people with OPMD have normal lifespans.
How to manage oculopharyngeal muscular dystrophy
OPMPD usually develops after age 40 and gets worse slowly. A speech-language
pathologist SLP can teach you ways to deal with speech or swallowing problems related to
OPMD. These may include swallowing techniques and strategies for talking. An
occupational therapist can help you with adaptive methods for daily tasks. You may also
find a cane, walker, or other walking aid helpful if the OPMD affects your leg
important to work with your healthcare team to address any swallowing issues. Strategies
such as changing the texture of food, taking smaller bites, or holding your head in
certain ways while swallowing may be helpful. You may need to have a procedure to make
swallowing safer and more comfortable. You may need to see a nutritionist to make sure
you get enough nutrition if you use a feeding tube.
and your family may find support from organizations such as the Muscular Dystrophy
Key points about oculopharyngeal muscular dystrophy
OPMD is a rare genetic condition that causes weakness in the muscles around the
upper eyelid and throat.
affects both men and women, usually first appearing in people after 40 years of
first symptoms are eyelid drooping and trouble swallowing.
swallowing problems increase the risk for potentially fatal aspiration
need procedures to help with swallowing or other problems.
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.
Online Medical Reviewer:
Anne Fetterman RN BSN
Online Medical Reviewer:
Joseph Campellone MD
Online Medical Reviewer:
Raymond Kent Turley BSN MSN RN
Date Last Reviewed:
© 2000-2019 The StayWell Company, LLC. 800 Township Line Road, Yardley, PA 19067. All rights reserved. This information is not intended as a substitute for professional medical care. Always follow your healthcare professional's instructions.