Are your facial and shoulder muscles weak? Let's talk about FSHD (Facioscapulohumeral Muscular Dystrophy)!

Do you sometimes feel like the muscles in your face, shoulders, or arms are a little weak? Maybe you have difficulty smiling or whistling. If you have these symptoms, it could be due to a muscle weakness condition called FSHD. Let's talk about this in detail, very simply.

What is FSHD?

Simply put, FSHD is a disease that causes muscles to gradually weaken and shrink. It belongs to a larger group of diseases called ``Muscular Dystrophy (MD)``. It often starts in the muscles of your face, shoulders, and upper arms. But over time, it can affect any muscle in your body. It is an inherited disease. While some people may start to experience symptoms as early as infancy, symptoms usually begin to appear in young adulthood, usually between the ages of 15, 20, and 30. Don't worry, there is no cure for this yet. However, there are treatments that can help you manage your symptoms and live a normal life.

Are there types of FSHD?

There are two main types of FSHD. The symptoms are similar in both, but the cause of the disease is slightly different.

`FSHD1` type

This is what happens in 95 percent of cases. This happens when a gene that is normally inactive in our body's cells suddenly becomes active. The proteins produced by this newly activated gene destroy muscle cells. Imagine, this is like waking up a sleeping person and giving them a task and making them nervous.

`FSHD2` type

The remaining five percent (5%) belong to this type. Like `FSHD1`, here too, the proteins from an activated gene damage the muscles. However, `FSHD2` is caused by a mutation or change in a different gene. This gene mutation activates the gene that should be inactive. To be precise, it is like a `switch` that controls the gene breaks.

Is this disease called FSHD common?

Researchers believe that this disease affects between four (4) and ten (10) people out of every hundred thousand . That means it is a bit rare, but it is possible that these patients exist in Sri Lanka as well.

What are the symptoms of FSHD?

The name FSHD is derived from Latin and medical terms. That is, according to the parts of the body where these symptoms first appear. Let's see what they are.

• `Facio`: This means face . People with FSHD have difficulty blowing their lips and drinking through a straw. They sometimes sleep with their eyes slightly open. This is because the muscles that keep them closed completely are unable to close them. Some people may feel as if one side of their face is not working properly even when they smile.
• `Scapulo` (Scapula): This refers to the shoulder blade . FSHD weakens the muscles in the shoulder blade. Then, when you shrug your shoulders, the shoulder blades stick out backwards and move up towards the neck. Like two wings. Doctors also call this ``scapular winging``. This can make it difficult to raise your arms or lift weights.
• Humeral: This refers to the upper arm. That is, the bone that runs from the shoulder to the elbow. If you have FSHD, the muscles in your front arm (biceps) and back arm (triceps) become abnormally weak. This makes it difficult to do things like raise your arms above your shoulders, comb your hair, or pick something up from a shelf.

In FSHD , different muscles may be affected at different times. For example, your right arm may be weak, but your left arm may not be. Or both arms may be weak, but one may be much weaker than the other.

Some other common symptoms:

• Protruding stomach due to weakness of the lower abdominal muscles.
• The breastbone is sunken in.
• Weak or sagging wrists.
• Chronic fatigue. That means feeling tired all the time.
• Sometimes there is severe pain . This pain can occur in the muscles and joints.

What are the possible side effects of FSHD?

The disease can have other side effects. For example, vision, hearing, and walking can be affected . About twenty percent (20%) of people with FSHD will need to use a wheelchair after age 50.

Other specific situations:

• Coats disease: Abnormal blood vessels in the retina, which is the inner layer of the eye. This can affect vision.
• Exposure keratitis: Dryness of the transparent front part of the eye (cornea) due to the inability to close the eye properly. This can cause redness and pain in the eyes.
• Difficulty hearing high-frequency sounds (`High-frequency hearing loss`). This means that low-pitched sounds are less audible.
• `Trendelenburg gait`: Weakness in the thigh muscles causes a swaying gait on the affected side.
• `Footdrop`: Inability to bend the foot upwards. This can cause the foot to drag along the ground when walking, causing you to stumble.
• Lordosis: Forward curvature of the lower back.
• Scoliosis: A sideways curvature of the spine.

What are the causes of FSHD?

As we've discussed before, there are two main causes of FSHD. Both are related to genes.

`FSHD1` is formed like this: The `DUX4` gene in our body's cells is normally inactive. That is, it does not work. But when this gene is activated, the proteins it produces damage the muscles. Over time, the affected muscles weaken and shrink (atrophy).

`FSHD2` is caused by a mutation in the `SMCHD1` gene in our body. This `SMCHD1` gene normally helps keep the `DUX4` gene from being activated. It's like a gate being closed. But when the `SMCHD1` gene changes, it doesn't work properly. Then, just like in `FSHD1`, the proteins produced by the activated `DUX4` gene damage the muscles.

How is FSHD inherited?

The disease is mainly inherited in an autosomal dominant manner. This means that even if one parent has one copy of the abnormal gene, their children can still get the disease. A person with FSHD has a 50 percent (50%) chance of passing the abnormal gene on to their children. This means that if they have two children, one of them has a chance of getting the disease.

However, about 30 percent (30%) of people with FSHD1 have no family history of the disease. Researchers believe that this may be due to a new mutation occurring after conception. This may also be due to a condition called mosaicism. Mosaicism is when the genetic makeup of cells in the same person is different. Simply put, some cells in the body have the problematic gene, while others do not.

What are the risk factors for developing FSHD?

The main risk factor for developing this disease is family history. This means that if your mother, father, or siblings have this disease, you are more likely to develop it.

How is FSHD diagnosed?

A doctor will first give you a complete physical examination. Then they will ask you if anyone in your family has had these symptoms or FSHD.

In addition, you can also do tests like these:

• Blood tests: These mainly look at the levels of enzymes called `(serum creatine kinase)` and `(serum aldolase)`. If these enzyme levels are elevated, it may be a sign that there is a problem with the muscles.
• Neurological tests: These tests are done to rule out other nervous system conditions. They check things like your reflexes and coordination. They also look for patterns of muscle weakness and whether your muscles are contracting or tightening (electromyography).
• Muscle biopsy: In this test, a small sample of muscle tissue is taken and examined under a microscope. This can show the damage to the muscle cells.
• Genetic tests: This is the only test that can definitively confirm the type of FSHD. It can detect whether there is a problem with the DUX4 gene.

What are the treatments for FSHD?

As we've said before, there's no cure for FSHD. However, there are a few ways doctors recommend to help manage symptoms and make life easier:

• Physical therapy: This involves exercises and treatments to keep muscles strong and joints moving well.
• Orthotic devices to support weak muscles: For example, corsets for weak abdominal muscles, back supports, and braces to reduce shoulder and arm pain. Also, orthotics for your shoes to make walking easier and reduce falls.
• Surgical scapular fixation is a procedure that improves the range of motion of the shoulder. This fixes the shoulder blade to the chest, making it easier to raise the arm.

What is the life expectancy of someone with FSHD?

This is a question that many people ask. In most cases, people with FSHD can live a normal life span. That is, this disease does not shorten life span. Don't worry about it.

How do I take care of myself?

FSHD is a life-changing disease that currently has no cure. But here are some suggestions to help you live with the condition:

• Connect with others who have FSHD. This is a rare condition, so many people don't know about it. You may not feel like talking about your condition, and you may feel lonely and isolated. Talking to others who are going through the same thing as you can be a great help. There may be support groups for patients like this in Sri Lanka.
• See an occupational therapist. FSHD limits the things you can do on your own. Losing your independence can be frustrating and scary. Occupational therapy can help you adjust to this new normal and help you do everyday tasks more easily.
• Do some light ``aerobic`` exercise. Exercises like swimming and walking help you move. What's more, exercise helps reduce stress. However, be sure to talk to your doctor before starting an exercise program. Because some exercises are not good for this condition.

When should I see my doctor?

If you experience new muscle weakness, or if your weakness seems to be getting worse, see a doctor immediately. Also, be aware of other symptoms, such as fever and difficulty breathing.

What questions should I ask my doctor?

You can ask the doctor questions like these:

• No one in my family has FSHD. Why did I get this?
• What are the treatments for my current problems?
• Will my symptoms get worse?
• How quickly will my symptoms get worse?
• Should my family members undergo genetic testing?
• What support groups are there that can help me?

When you receive a diagnosis of FSHD, you may feel relieved, thinking, "Oh, this is why my muscles haven't worked properly for so long, why I can't smile or raise my arms." Now that you know what's wrong, you may be curious and worried about what will happen next. If you have any questions, your doctor is the best place to get information about what to expect.

What message do we want to take home from this story?

FSHD is a progressive disease that initially weakens the muscles of the face, shoulders, and arms. It can be inherited, or it can be caused by new genetic mutations. Although there is no cure for it, managing the symptoms and getting the help you need can help you maintain a good quality of life. If you have these symptoms, it is important to seek medical advice as soon as possible. Also, remember that you are not alone in this journey. May you find the strength to face this condition with the right knowledge, support, and a positive attitude!

` FSHD, Facioscapulohumeral Muscular Dystrophy, muscle weakness, muscle disease, genetic disease, shoulder pain, facial muscles