Oculopharyngeal muscular dystrophy

When future generations have an expanded repeat of the gene, we call this anticipation. While some genetic repeat disorder show ‘anticipation’, oculopharyngeal muscular dystrophy is NOT one of those diseases. It is unlikely that the number of repeats will expand from generation to generation. This means that the number of repeats is usually the same in all affected family members.

Determining who to test in a family for oculopharyngeal muscular dystrophy (OPMD) can be difficult, as the risk for each family member may be different depending on the genetic relationship. Risks can be up to 50% first degree relatives: parents, children, siblings.

For example, if a parent is affected with autosomal dominant OPMD, the risk to each of their children is 50% to have inherited the disease-causing variant, often called a mutation. If a person is affected with autosomal dominant OPMD, the risk to their siblings is 50% to have inherited the mutation. However, if that person has a half-sibling through the unaffected parent, the risk may not be at increased of inheriting the mutation, based on their genetic relationship.

It is important to speak with your doctor, a geneticist, or a genetic counselor to get a risk assessment that is personalized to you.

A genetic counselor may draw a family tree (pedigree) to help understand who in the family is at risk. This tool is helpful in seeing who should be referred for genetic testing.

You may wish to join a support group for individuals living with oculopharyngeal muscular dystrophy (OPMD), or people caring for individuals living with OPMD.

Testing for oculopharyngeal muscular dystrophy (OPMD) genetic testing is most commonly done using blood or saliva samples. Many different laboratories do this type of testing and sample type may differ depending on the lab used.

Oculopharyngeal muscular dystrophy (OPMD) is a progressive genetic condition. This means that symptoms worsen over time. There are no available treatments for OPMD at this time. Medical managment can help with quality of life. Please see more information in the Treatment section.

Sometimes, there are clinical trials. You can check with a Center of Excellence/MDA Care Center in your area or look for clinical trials online.

The specialists recommended for patients with a diagnosis of oculopharyngeal muscular dystrophy (OPMD) are:

There are some other disorders that can have similar symptoms to oculopharyngeal muscular dystrophy (OPMD):

Oculopharyngeal muscular dystrophy (OPMD) is a genetic condition which affects the muscles. Typically, affected individuals will experience symptoms in adulthood; usually after age 40. OPMD is a progressive disorder, meaning the symptoms worsen as a person ages.

Oculo – means related to the eyes. This refers to the droopy eyelids (ptosis) experienced by individuals with OPMD
Pharyngeal – means related to the pharynx. The pharynx is the part of the throat that help you swallow. People with OPMD have difficulty swallowing because of problems with the pharynx.
Muscular dystrophy – means weakening of the muscles. Individuals with OPMD have muscle weakness, especially of the eyes and throat, which causes the symptoms seen in the disorder.

The most common early symptoms are –

Individuals diagnosed with oculopharyngeal muscular dystrophy (OPMD) may notice difficulty swallowing. This can lead to choking, which may cause infections in the lungs, such as pneumonia. Talk with your doctor about the best way to safely get adequate nutrition, while reducing the chance of choking.

Oculopharyngeal muscular dystrophy (OPMD) is caused by a change in the gene named PABPN1. Every person has two copies of this gene; one from their mother and the other from their father. There is an important spot in the beginning of this gene which has ten copies of a building block (amino acid) repeated in a row. Individuals with OPMD have more than ten of these repeats, which cause the gene to be read incorrectly. People with OPMD typically have 11-18 repeats in this region.

With autosomal dominant OPMD, the affected individual has one copy the gene with 10 repeats and the other with 12-18 repeats. With autosomal recessive OPMD, the affected individual usually has two copies of the gene with 11 repeats.

Oculopharyngeal muscular dystrophy is a word that can be broken down into smaller parts, used to describe the symptoms of the disorder.

Oculopharyngeal muscular dystrophy (OPMD) is a slowly progressive genetic disorder that mainly affects the muscles. Early in the disease, the muscles that are affected are the eyes and the throat.

When the muscles in the eyelids become weak, they become ‘droopy’. This drooping of the eyelids is referred to as ptosis. The average age this symptom is noticed is around 48 years. It is always seen in both eyes, although at first it may be more apparent on one side.

When the muscles of the throat (pharynx) become weak, it causes difficulty swallowing. This difficulty is referred to as dysphagia. The average age this symptom is noticed is around 50 years. Early in the disease, individuals may notice it takes them longer to eat meals or they may avoid dry foods due to difficulty swallowing. Later, liquids also become difficult to eat and drink. This can cause many different problems including choking and poor nutrition.

As the disease progresses, affected individuals may experience tongue weakness and a ‘wet’ sounding voice due to difficulty swallowing saliva. They may also notice weakening of the shoulder and hip muscles. In some, this weakness requires them to use the assistance of a wheelchair for mobility.

People with OPMD do not have a shortened lifespan. They may experience complications from choking, such as aspiration pneumonia; or problems with poor nutrition. If these complications are managed, lifespan does not appear to be affected.

When you are diagnosed with oculopharyngeal muscular dystrophy, it is recommended that you have an appointment with:

While there is no cure for oculopharyngeal muscular dystrophy (OPMD), there is recommended management for the condition.

Eyelids (ptosis): if the drooping the eyelids interferes with vision, surgery may be recommended to raise the eyelid.

Throat/Swallowing (dysphagia): choking is a concern in individuals with OPMD. It is recommended that food be cut into small pieces. There are also some surgeries that may assist in swallowing.

It is recommended that individuals with a diagnosis of OPMD follow with:

The screening done at birth for infants born in the United States does not include oculopharyngeal muscular dystrophy. Genetic testing is possible; however, as OPMD is an adult onset disorder, testing in unaffected children is typically deferred until adulthood.

Previoulsy, with the limited access to genetic testing, a muscle biopsy was typically done to confirm the diagnosis of OPMD. However, with genetic testing more readily available, testing for the PABPN1 gene is now more widely utilized.

As of January 2019, there are no clinical trials offering a treatment for Oculopharyngeal muscular dystrophy (OPMD).

There are some trials which allow for the study of the natural progression of the disease without treatment, and studies which are testing the accuracy of diagnostic tools for swallowing (dysphagia).

Clinical trials may be added in the future. Continue to check the clinical trials website for an up to date listing.

The Muscular Dystrophy Association (MDA) and other support groups may also have useful links regarding clinical trials.

Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder which is hereditary, but not contagious. It is possible to pass the genetic disorder to your children through DNA changes at conception, but you cannot give someone OPMD through contact, handshakes, or coughing.

To learn more about the inheritance of the disorder, see the inheritance section.

You should speak with your doctor or OBGYN if you would like to learn more about pregnancy and oculopharyngeal muscular dystrophy. Of note, the symptoms of OPMD usually don’t appear until after childbearing age.

You should inform your primary care doctor if you have a diagnosis of oculopharyngeal muscular dystrophy (OPMD). Your doctor may wish to speak with your care team regarding your treatment and management. Most of the time this would be the specialist treating your most problematic symptom, such as swallowing (gastroenterology and/or neurology) or muscle weakness (neurology). This will help your primary care physician understand the details of your treatment from that specialist. Other times, if you have seen genetics, they may give primary care physician a more broad understanding of your symptoms from all angles. This can help your primary care doctor understand your treatment plan and help assist in your medical management.

Genetic tests for ancestry and other online tests cannot tell you if you have a disease-causing genetic mutation for oculopharyngeal muscular dystrophy (OPMD). This is because the technology used in the ancestry laboratories is different from the technology used in a clinical laboratory testing for OMPD. Although ancestry labs are testing your DNA, they are only looking at small parts of it related to your ethnic background. The testing for OMPD is a very specific test for one gene: PABPN1.

The most common type of oculopharyngeal muscular dystrophy (OPMD) is inherited in an autosomal dominant manner. Each person has two copies of every gene; one from their mother and one from their father. In an autosomal dominant condition, a change in one copy of that gene is sufficient to cause the disorder.

This means that if a person has an autosomal dominant disease, like OPMD, they will presumably have a change in one of their PABPN1 genes. When that person has a child, they may pass on the gene with a mutation or the gene without the mutation. The process is completely random and the person cannot choose which copy of the gene they pass on. If the child inherits the copy of the gene with the disease-causing variant (mutation), they will be affected with the disorder. If the child inherits the copy of the gene without the disease-causing variant (mutation), they will not be affected with the disorder.

A person who has autosomal dominant OPMD has a 50% chance of passing on the gene with the mutation in each pregnancy. Also, an affected person’s siblings have a 50% chance of having inherited the same mutation from an affected parent.

It is important to remember that OPMD is an adult onset condition, meaning that even people with a gene mutation will have the gene mutation their whole life, they usually do not start to show symptoms until adulthood. Children are not expected to show signs of the disorder.

There are two types of oculopharyngeal muscular dystrophy (OPMD). Each has a different inheritance pattern:

There are many ways you can donate to help research in oculopharyngeal muscular dystrophy (OPMD). Websites and support groups for OPMD usually offer a way to help support research. The Muscular Dystrophy Association (MDA) and National Organization for Rare Disorders (NORD) are great places to start. You may also consider donating to a Center of Excellence that is doing research.

Oculopharyngeal muscular dystrophy (OPMD) is suspected based on clinical symptoms, but is confirmed by genetic testing. This testing looks at the gene responsible for the disorder: PABPN1. The testing can determine how many repeats are present in the gene.

There are many ways to find clinical trials for oculopharyngeal muscular dystrophy (OPMD).

You may wish to find a Center of Excellence or an experienced care team for oculopharyngeal muscular dystrophy (OPMD). Centers of excellence are genetic centers that specialize in the treatment of patient with specific conditions. At most centers you will see a geneticist, genetic counselor, nurse, or other specialist who will all work as a team to provide you with the best care. The can answer questions, discuss testing, and develop a treatment plan that is tailored to you. For more information about centers of excellence and care centers, visit the MDA Association.

The prevalence of OPMD depends on the intheritance pattern of the disease:

Oculopharyngeal muscular dystrophy (OPMD) generally doesn’t cause any major physical defects. However, since the eyelids are ‘droopy’ (ptosis) patients have noticed they may look tired even when they are not.

The testing for Oculopharyngeal muscular dystrophy (OPMD) identifies a genetic mutation in over 99% of people with the disorder. This means that almost all people with OPMD have a DNA change found on their genetic test.

It is thought that the age symptoms start showing depends on the number of repeats found in the gene. Individuals with 12 repeats of the amino acid alanine, for example, usually start showing symptoms later than individuals with 16 repeats. This is not true in all cases, but has been observed in many cases.

Oculopharyngeal muscular dystrophy (OPMD) affects both men and women equally. There is no apparent difference in the symptoms of the disorder between males and females. Both genders have the same chance of inheriting the disorder. Each child has the same chance of inheriting the disorder, regardless of which parent it came from. For example, an affected father can pass the disorder to any of his children, not just his sons. An affected mother can pass the disorder to any of her children, not just her daughters.

If you or someone in your family has oculopharyngeal muscular dystrophy (OPMD) you may be wondering if your children inherited the disorder. While genetic testing is technically possible in children, it is generally not recommended by medical professions in the case of OMPD. This is because it is an ‘adult onset condition’, or people don’t show signs until adulthood.

If you have oculopharyngeal muscular dystrophy (OPMD) and would like to learn more about your options of having a child who will not inherit the disease-causing variant (mutation), you should speak to your doctor or genetic counselor.

There are options available to individuals affected by OPMD. There is no right or wrong decision, and choices vary from family to family.

If you have symptoms of oculopharyngeal muscular dystrophy (OPMD), a genetic test can help confirm your diagnosis. However, if you have a family member with OPMD you may wish to know your chance of having inherited the disease-causing variant or mutation.
Genetic testing is possible for individuals who do not have symptoms. This is because the DNA change is present in individuals with OPMD from conception. However, even if you are found to have a genetic mutation for OPMD, it will not tell you when you will start to experience symptoms. There is no test to determine when a person will start to show signs of OPMD.

Oculopharyngeal muscular dystrophy is sometimes shortened to "OPMD".

You may wish to join a support group for individuals living with oculopharyngeal muscular dystrophy (OPMD), or people caring for individuals living with OPMD.

The main symptoms of oculopharyngeal muscular dystrophy are the eye and throat muscles. Since these symptoms overlap with many other disorders, it can be difficult to determine the diagnosis early in the disease. Genetic testing to look for a genetic change in the PAPBN1 gene can aid in diagnosis.

Oculopharyngeal muscular dystrophy (OPMD) does not shorten the lifespan of affected individuals. There can be complications, such as pneumonias and poor nutrition which can be dangerous; however, if the complications are avoided or are well managed, OPMD does not cause early death.