Are you aware of MSA (Multiple System Atrophy), a disease that affects several body systems?

Imagine, you suddenly have difficulty walking, lose your balance, and feel dizzy and fall when you stand up from a sitting position. It is normal to feel very scared when these things start happening all of a sudden. Although we sometimes don't pay much attention to these, they can be the first signs of some rare diseases. Today we are going to talk about one such rare, but very serious neurological disease. That is Multiple System Atrophy , a disease that we doctors and patients call (MSA) for short. Although this is a bit complicated topic, we will talk about it very simply, in a way that you can understand.

Simply put, what is this MSA?

MSA is a rare neurological disease in which parts of our brain gradually weaken and die. Over time, the body's abilities and functions controlled by these damaged parts of the brain gradually disappear. To be honest, this is a very sad situation, because this disease ultimately ends in death.

In the past, doctors called this collection of symptoms by three names. They were:

• Shy-Drager syndrome
• Sporadic olivopontocerebellar atrophy
• Striatonigral degeneration

But later, researchers realized that these three diseases had many common features. So, they combined them all and named them "Multiple System Atrophy" (MSA). "Multiple System" means "several systems." This means that this disease affects several systems in our body. The symptoms depend on which parts of the brain are damaged. That's why each person experiences a different combination of symptoms.

Later, the disease was further classified, mainly based on the symptoms it presents. Accordingly, there are two types of MSA.

Who is most at risk of developing MSA?

MSA usually affects adults, especially after the age of 30. Symptoms are most likely to appear between the ages of 50 and 59. This disease can affect anyone, regardless of gender.

This is a very rare disease. According to statistics, there are only 0.6 to 0.7 new cases per 100,000 people per year. This means that this is not a common disease in our society.

How does MSA disease affect our body?

MSA causes cells to die in different parts of the brain. Symptoms depend on which parts of the brain are damaged. The main parts of the brain that are affected are:

• Basal Ganglia: These are located right in the middle of the brain. They are like a hub that connects different parts of the brain to each other. It is through this part that different parts of the brain come together and work together.
• Brainstem: This is where the automatic processes in our body that are essential for survival are controlled. For example, things like breathing, heart rate, and blood pressure. These things happen automatically without us thinking about them, right? This is the control center.
• Cerebellum: This is located at the back of the head, near the base. This is the main part of our brain that coordinates our body movements and maintains our balance. In addition, research has now found that this part is also involved in our emotions and decision-making.

So, when these parts of the brain are damaged, all the processes controlled by those parts start to go haywire. For example, when the `(brainstem)` is damaged, there are serious problems with automatic processes like blood pressure.

What are the main symptoms of MSA?

In MSA, some symptoms are common to both types. In addition, there are features that are specific to each type. The main feature common to both types is autonomic dysfunction . Simply put, the processes that occur automatically in our body do not work properly.

Autonomic Dysfunction Symptoms

• Orthostatic Hypotension: This is the first symptom that many people experience. When you stand up suddenly from a sitting or lying position , your blood pressure drops suddenly . This can cause dizziness, blurred vision, and even fainting.
• Inability to control urine and stool: Urinary incontinence and fecal incontinence can occur when you least expect it.
• Sexual dysfunction: Problems such as erectile dysfunction, especially in men, occur during sexual intercourse.
• Sleep problems: In particular, a condition called ``(REM) sleep behavior disorder'' can be seen. In this, when you dream, you move your body, scream, and flail your limbs in response to your dreams.
• Decreased sweating (Anhidrosis): The body's ability to sweat is greatly reduced.
• Symptoms such as vision problems, dry mouth, sleep apnea, and constipation are also common.

Mental and emotional characteristics

About a third of MSA patients experience problems with their ability to think and concentrate. They also have difficulty controlling their emotions, which can lead to a variety of mental health problems.

• Anxiety
• Depression
• Crying or laughing inappropriately
• Panic attacks
• Thoughts of harming or killing yourself

Movement-related Symptoms

These characteristics vary depending on the two types of MSA we discussed earlier.

What causes MSA?

The exact cause of MSA is still unknown . However, scientists suspect that it is caused by a protein called alpha-synuclein . This protein is thought to accumulate abnormally in various parts of the brain, causing damage to brain cells. Surprisingly, this same protein is also suspected to be a cause of Parkinson's disease.

Proteins are essential for the functioning of our bodies. However, when these proteins assemble in the wrong places, in the wrong way, they can damage cells. That's what happens in MSA.

Research is still ongoing into why this alpha-synuclein protein accumulates in the brain. It is suspected that it may be due to genetic mutations. In particular, there is evidence that the MSA-C type can be transmitted from generation to generation to some extent. However, no such genetic link has yet been found for the MSA-P type.

How is MSA diagnosed?

This is the most challenging part of the disease. The only way to confirm MSA with 100% certainty is to examine brain tissue after someone has died. This is because there is currently no technology to detect the presence of the alpha-synuclein protein in the brain of a living person.

However, while the patient is alive, doctors can suspect the disease. They use things like symptoms, the patient's medical history, family history, and response to certain treatments. Often, doctors may initially diagnose Parkinson's disease. However, as other symptoms develop over time, or when Parkinson's medication stops working, the diagnosis may need to be changed to MSA.

Key differences between MSA and Parkinson's disease

Diagnostic tests

There are very few tests that can directly diagnose MSA. Most often, a series of tests are performed to rule out other conditions and gather evidence to support the suspicion that MSA may be the cause.

• MRI (Magnetic Resonance Imaging) scan: This can sometimes show damage to parts of the brain. In MSA-C, in particular, a pattern called the "hot cross bun" sign can be seen in a part of the brain. It looks like a hot cross bun. However, this sign can also be seen in other diseases, so it is not a definitive diagnosis of MSA.
• Genetic testing: This can check for genetic mutations related to the alpha-synuclein protein.
• Skin biopsy: Some new research suggests that this test can help determine whether alpha-synuclein is present in the nerve tissue of the skin. However, this is still in the research phase.

Your doctor will explain to you what tests he thinks are necessary, based on your condition, and what to expect from them.

Is there a treatment for MSA?

Unfortunately, there is currently no cure for MSA . Therefore, the main goal of treatment is to control the symptoms and maintain a good quality of life for as long as possible.

The treatment given depends on the patient's symptoms and their severity. For example, blood pressure medications are given for orthostatic hypotension, muscle relaxants for stiffness, and other medications for urinary control. Also, things like physiotherapy and speech therapy are very important.

What kind of future can someone with the disease expect?

MSA is a progressive disease. About half of those affected will need a walking aid (such as a cane or walker) within 5 years of the onset of symptoms. About 60% will need a wheelchair within 5 years. By 6 to 8 years, most patients are bedridden.

As the disease progresses, various medical procedures are required to maintain body functions.

• Tracheostomy is a procedure in which a small hole is made in the throat and a tube is inserted to help with breathing difficulties.
• Tube feeding is the administration of food through a tube when the patient cannot swallow.
• Tubing or other surgical procedures to control urine and stool.

Typically, the average life expectancy for a patient with MSA from the time of diagnosis is between 6 and 10 years. In some less severe cases, it is possible to live up to 15 years. However, if the disease is very severe, the life expectancy can be much shorter.

Death is mainly caused by complications of the disease. For example:

• Pneumonia.
• Sepsis (blood poisoning) due to urinary tract infection.
• Sudden death caused by problems with the brain's control of breathing during sleep.

How do we take care of our loved ones?

As the symptoms of a person with MSA worsen over time, they may eventually become unable to live independently. They may also lose the ability to think, speak, and make decisions for themselves.

Therefore, it is very important to talk about the future with your loved ones early in the disease, while the patient is still conscious. If you are in a situation where you are unable to make decisions, it is a great convenience for everyone if you can discuss in advance what decisions should be made about your medical treatment and prepare legal documents.

When should you see a doctor?

Many of the early symptoms of MSA are things you should definitely discuss with a doctor.

• Sexual immorality.
• Continuous dizziness and loss of consciousness upon standing up.
• Sleep problems, especially sleep apnea.

If your doctor has told you that you have a movement disorder like Parkinson's, it's important to talk about any changes in your symptoms. Especially if the medication (levodopa) for Parkinson's doesn't work, that's a big clue that you may have MSA.

MSA is a serious, fatal disease. It is true that there is no cure for it. However, many of the symptoms can be treated. Through that treatment, the patient's quality of life can be maintained at a good level for many years. That time is a precious opportunity to spend happily with their loved ones and enjoy life to the fullest.

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