Oculopharyngeal muscular dystrophy
Fact-checked by Oculopharyngeal muscular dystrophy (OPMD) is a rare inherited muscle disease that usually begins in adulthood. It commonly causes drooping eyelids and difficulty swallowing, followed by weakness around the hips, thighs, shoulders, and upper arms as the condition progresses.
Having a better understanding of OPMD, including how it is inherited and diagnosed, and how symptoms develop, can help in processing and navigating the condition. Recognizing its early signs allows people with OPMD and their healthcare team to address symptoms before they significantly affect daily routines.
By learning about available treatments and dietary adjustments, individuals can work with their care team to manage symptoms, prevent complications, and maintain quality of life.
What is OPMD?
A rare form of muscular dystrophy, OPMD primarily affects the muscles controlling the eyelids and throat.
The condition usually develops in middle age, typically in the late 40s or early 50s. Some common early symptoms are ptosis, in which the upper eyelid falls or droops due to weakened muscles, and dysphagia, or difficulty swallowing.
In most people, ptosis begins at approximately 48 years of age, while swallowing difficulties start at about age 50.
As OPMD progresses, weakness in the muscles around the shoulders may occur; later, this typically affects the hips and upper legs as well.
OPMD overview
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| Feature | What to know |
|---|---|
| Typical onset | Usually first seen in middle age, often in the 40s or 50s |
| First symptoms | Drooping eyelids, known as ptosis, and difficulty swallowing, called dysphagia |
| Affected gene | PABPN1 |
| Inheritance | Usually autosomal dominant, in which one mutated gene copy is enough to develop the disease
Rarer forms involve two altered copies of the gene |
| Diagnosis | Reached after clinical evaluation and genetic testing |
| Progression | Symptoms usually progress slowly |
| Treatment | Usually focused on symptom management, swallowing support
Often involves physical therapy, occupational therapy Selected surgical procedures done in some cases |
What are the symptoms of OPMD?
The main symptoms of OPMD typically start with the eyelids, throat, and muscles around the hips and shoulders.
These symptoms generally develop gradually, but their severity and rate of progression can vary from person to person.
Drooping eyelids and vision problems
People with OPMD can develop drooping eyelids. It is always present on both sides, although one eyelid may initially droop more than the other.
Other eye-related symptoms include:
- difficulty keeping the eyes open
- difficulty looking upward
- double vision
- a need to change head or neck position to compensate for drooping eyelids
Swallowing and speech difficulties
Individuals with OPMD may also notice difficulty swallowing. Initially, this may be subtle.
People may notice that it takes them longer than usual to finish a meal, or they may avoid dry foods because they are harder to swallow.
Swallowing problems can progress from difficulty with solid foods to a hard time swallowing liquids.
Other swallowing and speech problems may include:
- coughing or choking while eating or drinking
- difficulty managing saliva
- chewing difficulties
- a wet or gurgly voice and other changes in speech
Swallowing safety
Swallowing safety is a key consideration in OPMD.
When swallowing problems occur, food or liquids can slip into the airway instead of the stomach. This can cause a type of lung infection called aspiration pneumonia.
Swallowing difficulties also can make it difficult for people to get enough nutrition.
Individuals should contact their care team if swallowing problems are becoming frequent or worsening, especially if the following issues occur:
- repeated choking
- coughing during meals
- unexplained weight loss
- recurrent chest infections
- difficulty managing saliva
A speech and language therapist can assess swallowing and recommend appropriate strategies.
Shoulder, hip, and leg weakness
As the condition progresses, muscle weakness may evolve to affect muscles around the hips, thighs, and shoulders.
For example, individuals may have difficulty climbing stairs, rising from a chair, walking long distances, or lifting objects overhead.
In severe OPMD, progressive weakness can eventually make walking difficult. Approximately 1 in 10 people with OPMD may need a wheelchair as weakness progresses.
What causes OPMD and how is it inherited?
OPMD is caused by a mutation in the PABPN1 gene. This gene contains a repeated DNA sequence known as a GCN trinucleotide repeat. In people with OPMD, this repeat is abnormally expanded.
The altered gene affects the production and function of the PABPN1 protein. Abnormal PABPN1 protein can form toxic clumps inside muscle cells, contributing to progressive muscle weakness.
A person’s care team can request genetic testing to identify the repeat expansion and confirm the diagnosis.
Dominant and recessive inheritance
OPMD inheritance is most commonly autosomal dominant. This means that individuals can develop OPMD if they inherit one altered copy of the PABPN1 gene from a biological parent.
For those with one altered copy of the PABPN1 gene, each biological child has a 50% chance of inheriting the altered gene and developing the condition.
Rarely, a person can inherit altered copies of the PABPN1 gene from both biological parents. These forms can be associated with earlier onset or more severe disease.
A genetic counselor can help those with OPMD and their families to navigate how a diagnosis may affect other relatives or alter family planning.
How is OPMD diagnosed?
Healthcare professionals may suspect OPMD if a person develops the characteristic combination of drooping eyelids and swallowing difficulties — especially if there is a history of similar symptoms in the family.
The care team can recommend genetic testing to confirm an OPMD diagnosis; individuals may also undergo further assessments to determine the extent of muscle involvement or exclude other conditions that cause similar symptoms.
Other potential diagnostic tests include:
- an examination of muscle strength and nerve function
- an assessment of swallowing
- an eye and eyelid examination
- electromyography, which measures electrical activity in skeletal muscles or the muscles responsible for motor activity
- a muscle biopsy, in which tissue is collected and tested in a lab
- creatine kinase testing, in which a blood test measures enzyme levels to check for muscle damage
How is OPMD treated?
Treatment for OPMD will focus on managing symptoms and preventing complications. Strategies for maintaining independence and supporting quality of life typically are also considered.
Managing drooping eyelids
If ptosis significantly interferes with vision or daily activities, an eye specialist may assess whether surgery known as blepharoplasty could help. During this procedure, a surgeon may lift or remove part of the eyelid’s front section.
Treating swallowing difficulties
Individuals with swallowing problems may benefit from dietary modifications.
Among some recommended changes may be:
- choosing food textures that are easier to swallow
- holding the head in different positions while eating
- taking smaller bites or cutting food into smaller pieces
A speech and language therapist can assess swallowing and recommend safer eating and drinking techniques.
If swallowing problems are severe, an individual may be offered surgery or have a feeding tube placed directly into the stomach.
Physical, occupational, and speech therapy
Different types of therapies and devices can help to improve quality of life and teach individuals with OPMD new ways to move and function more effectively.
- Physical therapy, also called physiotherapy, can help in maintaining mobility, strength, flexibility, and safe movement.
- Occupational therapy may help individuals adapt their everyday activities and their environment as weakness progresses. An occupational therapist can also teach people how to use different devices and adjust their home setup for ease of navigation with OPMD. This may be especially beneficial if weakness is beginning to affect the shoulders, hips, or leg muscles.
- Speech and language therapy can help in managing communication and swallowing difficulties.
- Assistive devices, such as walking aids, may become useful when leg weakness increases a person’s risk of falls and reduces mobility.
How does OPMD progress?
OPMD usually progresses slowly, but the pattern and speed may vary considerably from person to person.
In typical OPMD, which accounts for 90%-95% of all cases, people may experience drooping eyelids and swallowing difficulties several years — sometimes as long as a decade — before weakness around the hips and thighs develops.
In severe disease, ptosis and difficulty swallowing tend to emerge earlier, before age 45. Severe weakness in leg muscles, which can significantly interfere with a person’s ability to walk and remain independent, usually starts before age 60.
In people with OPMD, life expectancy is generally normal with proper management. However, complications related to swallowing and respiratory problems can be life-threatening if not addressed properly.
Living with OPMD
Those living with OPMD may need to adapt to gradual changes in eating, vision, mobility, and communication.
Practical changes may include:
- allowing more time to finish meals
- choosing food textures that are easier to swallow
- following swallowing strategies recommended by therapists or other members of the care team
- adjusting head position or using other strategies to compensate for drooping eyelids
- using mobility aids when needed
- modifying the home to reduce the risk of falls
- conserving energy when fatigue limits daily activities
- working with physical, occupational, and speech therapists
Regular follow-up with a care team can help monitor changes in symptoms over time.
The member of the care team may monitor the following:
- muscle strength and mobility
- ability to swallow and nutritional status
- breathing function
- eye symptoms
- other complications
Preparing for medical appointments
Keeping track of changes between appointments can help the care team understand how OPMD is affecting a person’s daily life.
Consider recording:
- episodes of choking or coughing while eating
- how long it takes to finish a meal
- foods or textures that have become difficult to swallow
- changes in weight or appetite
- falls or increasing difficulty climbing stairs
- changes in vision caused by drooping eyelids
- changes in speech or difficulty being understood
- increasing fatigue or difficulty with everyday activities
OPMD is a lifelong condition, but appropriate support can help in managing symptoms, maintaining mobility and independence, and reducing complications.
Early attention to swallowing difficulties is particularly important because maintaining good nutrition and reducing the risk of aspiration can have major impacts on quality of life.
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