Are you also concerned about the weakening of your eyelids and throat? Let's talk about OPMD (Oculopharyngeal Muscular Dystrophy)

Have you ever felt like your eyelids are getting a little heavy, and it's hard to open them properly? Or have a little difficulty swallowing, or a feeling like something is stuck in your throat? These can sometimes be normal things that come with age. However, in rare cases, these can also be symptoms of a genetic condition called Oculopharyngeal Muscular Dystrophy (OPMD) . Don't worry, today we'll talk about what OPMD is, how it develops, what are the symptoms, and whether there is a treatment.

What is OPMD (Oculopharyngeal Muscular Dystrophy)? Let's understand it simply.

Simply put, Oculopharyngeal Muscular Dystrophy (OPMD) is a very rare genetic disease. What happens in this is that some of the muscles in our body gradually weaken. Imagine, although the genetic change that causes this disease is something that we are born with, most often the symptoms begin to appear in middle age, that is, around the age of 40 or 50. This OPMD belongs to the group of diseases that weaken the muscles called Muscular Dystrophy . These are diseases that are passed down from generation to generation, that is, transmitted through genes. OPMD is called "Oculopharyngeal", and it mainly affects our:

• Ocular - that is, the muscles around the eyes.
• Pharyngeal - This refers to the muscles in the throat that help us swallow food and speak.

These symptoms develop gradually, which means they are progressive . But the good news is that most of the time, these symptoms develop very slowly. So there is no need to worry.

How common is OPMD? Who is most likely to develop it?

In fact, there are no exact statistics on how many people in the world have OPMD. However, experts estimate that between 3,000 and 30,000 people in the United States alone may have this disease. This means that it is a relatively rare disease. Although OPMD can develop in anyone, it is more common in certain groups of people. For example:

• Among the Bukharan Jewish population in Israel (about one in every 700 people).
• Among the French-Canadian population in the province of Quebec, Canada (about one in every 1,000 people).

Although there is no clear data on this situation in Sri Lanka, it is important to seek medical advice if you have symptoms like these.

What are the symptoms of OPMD? How is it diagnosed?

As we've discussed before, OPMD mainly affects your eyes and throat. So, weakness in the muscles of your eyelids and throat can cause symptoms like these:

• Drooping eyelids ( Ptosis ) : The eyelids appear heavy and cannot be opened properly. Sometimes, vision can be obstructed.
• FoodDifficulty swallowing ( Dysphagia ): A feeling of a lump in the throat or difficulty swallowing when swallowing food or drink. This is the main and somewhat bothersome symptom seen in OPMD.
• Dysphonia : Voice changes, hoarseness, or difficulty speaking clearly.
• Double vision (Diplopia) : One thing may appear to be two.
• Facial muscle weakness : The muscles that control facial emotions may become weak.
• Vision impairment and eye movement limitations : It may be difficult to turn your eyes and look up.
• Weakening or atrophy of the tongue muscles : This can lead to things like inability to use the tongue properly and difficulty moving food around in the mouth.

In addition to these symptoms, people with OPMD may also experience weakness in the muscles in the middle of the body (what we call proximal muscles ). Specifically:

• Hip area
• Shoulders
• Upper thigh

When these muscles become weak, it can be difficult to walk. Some people may need to use a cane or walker . About 1 in 10 people with OPMD may need a wheelchair .

What if symptoms come earlier than expected?

Very rarely, some people can develop a severe form of OPMD. This is when muscle weakness begins to become severe before the age of 45. In such cases, it is common for people to become unable to walk on their own by the age of 60. In addition, they may experience:

• Depression
• Delusions (seeming things that are not real)
• Cognitive decline
• Nerve problems (Neuropathy)

This kind of situation is very rare, but it's good to know, right?

What causes OPMD?

OPMD is a genetic disorder . This means that it is caused by a mutation in our genes at birth. The genetic mutation that causes OPMD occurs in the PABPN1 gene . This PABPN1We can inherit the genetic mutation from our mother, father, or both. Most of the time, one of the parents of a person with OPMD has OPMD. Think about it, most of our genes come in pairs. So, we also have two copies of this PABPN1 gene in our DNA. To develop OPMD, it is enough to have that genetic mutation in only one copy of this PABPN1 gene. However, some people can have this genetic mutation in both copies of the PABPN1 gene. In such people, OPMD symptoms can usually be a little more severe and appear earlier.

How do you know for sure if you have OPMD? (Diagnosis)

If you have symptoms of OPMD, your doctor will first diagnose you based on your symptoms. Then, they will do a blood test to confirm the diagnosis. This will look for a mutation in the PABPN1 gene. In addition, your doctor may also do the following tests:

• Electromyograms (EMG) : This test looks at how your muscles respond to nerve signals. This usually includes nerve conduction studies and needle electrode examinations .
• Muscle biopsies : This involves taking a small sample of muscle tissue and testing it. This muscle biopsy can help detect the PABPN1 gene mutation if blood tests are not clear.
• Swallowing tests : If you have difficulty swallowing ( dysphagia ), these tests look for problems with the muscles in your throat to find the cause.

What are the treatments for OPMD?

Treatment for OPMD varies depending on your symptoms and their severity. Don't worry, there are several treatments that can help control your symptoms.

• Occupational or physical therapy : Working with a therapist can help you build strength and perform daily activities. If you have trouble walking due to muscle weakness, your therapist may recommend the use of devices such as canes , leg braces, or walkers .
• Speech therapy : A speech and language pathologist can help you with swallowing and speaking problems caused by OPMD. Swallowing difficulties can be reduced by things like eating with smaller mouthfuls, changing the way you hold your head, or changing your eating habits.
• Botulinum toxin injections : A doctor injects botulinum toxin into a muscle at the top of your throat.You can get an injection. This temporarily relaxes the muscle, making it easier for you to swallow. But to maintain these results, you will need to get this injection every few months.
• Blepharoptosis repair: If your vision is obstructed by drooping eyelids ( ptosis ), a doctor may recommend plastic surgery . Blepharoptosis repair is a procedure that lifts your eyelids so you can see better.
• Cricopharyngeal myotomy : This is a surgical procedure. A surgeon makes a small cut in your throat, specifically in the cricopharyngeal muscle, which is located just above the esophagus . This helps relax the muscles in your throat, allowing food to pass more easily into your esophagus.
• Tube feeding (Enteral nutrition) : If your difficulty swallowing ( dysphagia ) is severe, a feeding tube may be an appropriate treatment. A doctor inserts this tube through your nose or stomach and delivers nutrients directly into your intestines or stomach. This allows you to get the nutrition you need, bypassing your throat entirely.

The most important thing is to talk to a doctor to choose the treatment that is best for you. Not everyone's situation is the same.

Are there any new treatments for OPMD that are in clinical trials?

Yes, you may be eligible for clinical trial treatments for OPMD. You can ask your doctor about these. Doctors are also using additional vaccines to help relieve OPMD symptoms. However, researchers are still studying the long-term effects of these treatments.

Is there a way to prevent OPMD from developing?

Unfortunately, OPMD is a genetic condition, so there is no way to prevent it from developing. However, if one of your parents has OPMD, you may want to consider genetic testing . This test checks for the genetic variation that causes OPMD. A genetic counselor will explain your test results to you and will also educate you about the risk of passing OPMD or other inherited conditions to your children.

What is the future like for someone with OPMD?

OPMD can have a negative impact on your quality of life. However, it usually does not affect your lifespan. Treatment can help control symptoms and reduce the risk of complications. So don't worry.

What are the possible complications of OPMD?

The main complication of OPMD is related to difficulty swallowing. Your tongue and throat muscles become weak, making it difficult to eat. This increases your risk of:

• Aspiration pneumonia (pneumonia caused by food or liquids entering the airway )
• Choking
• Malnutrition

So, if you have difficulty swallowing ( dysphagia ) due to OPMD, be sure to talk to your doctor about treatment options. You may also need to change your eating habits to reduce your risk of these complications.

What questions should I ask my doctor?

If you have OPMD, or think you might have it, it's a good idea to ask your doctor questions like these:

• What are the early symptoms of OPMD?
• How to accurately diagnose OPMD?
• What are the treatment options for OPMD?
• What are the possible complications of OPMD?
• What are the chances that my children will get OPMD from me?

Ask these questions to gain a better understanding of your situation.

Can OPMD even cause death?

OPMD itself does not directly affect your lifespan. However, if left untreated, throat muscle weakness can increase the risk of life-threatening conditions such as choking or aspiration pneumonia . Therefore, it is important to seek treatment early if you have symptoms.

Can OPMD cause fatigue?

Yes, OPMD can cause fatigue. Fatigue is not the main symptom of OPMD, but it is common among people with the condition. One study found that about half of people with OPMD experience fatigue that interferes with their daily activities.

What other conditions have similar symptoms to OPMD?

There are some medical conditions whose symptoms can be similar to OPMD. Therefore, it is important to get an accurate diagnosis. Some examples are:

• Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) : This is also a hereditary disease. The symptoms are narrowing and drooping of the eyelids.
• Chronic progressive external ophthalmoplegia (Kearns-Sayre syndrome) : This is a rare neuromuscular disease that affects the eyes and heart.
• Myasthenia gravis : This is an autoimmune disease that causes muscle weakness and fatigue.
• Oculopharyngodistal myopathy : This disease can cause many of the symptoms of OPMD, along with respiratory distress and possibly hearing loss.

What to remember from what we've talked about (Take-Home Message)

Okay, so now you know that OPMD (Oculopharyngeal Muscular Dystrophy) is a rare genetic condition that weakens the muscles of the eyelids and throat. Symptoms often appear after the age of 40. So, if you experience any symptoms, such as drooping eyelids or difficulty swallowing, seek medical advice without delay . Your doctor can perform the necessary tests to diagnose OPMD and provide treatment to help control your symptoms.

Remember, OPMD symptoms tend to get worse over time. And it doesn't affect your lifespan. With proper treatment, you can maintain a good quality of life. That's why it's important to stay strong.

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