Multiple System Atrophy

What is multiple system atrophy?

Multiple system atrophy (MSA) is a rare neurological disease that causes certain brain areas to deteriorate. Over time, this disrupts abilities and functions handled by those brain areas. This disease is ultimately fatal.

MSA is a new term that combines features of three older condition names. Those conditions are:

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

Experts introduced the name multiple system atrophy after noticing that the above conditions had several features in common. The symptoms depend on the brain areas affected, which is why the symptoms can have different forms and combinations.

After recognizing MSA as a specific disease, experts further defined it by classifying it into two types based on symptoms:

• MSA-C. The C in this name is for “cerebellar.” This type of MSA affects your ability to coordinate your movements, causing symptoms like ataxia. That symptom is the most prominent feature, but people with this type also experience autonomic dysfunction and falls.
• MSA-P. The P in this name is for “parkinsonism.” This type of MSA has symptoms that are similar to what happens with the parkinsonism family of movement disorders. Parkinsonism may be more prominent in the beginning, but autonomic features can also happen along with ataxia.

Who does multiple system atrophy affect?

MSA affects adults over age 30. The symptoms are most likely to start between ages 50 and 59. The condition doesn’t affect people differently depending on sex.

How common is multiple system atrophy?

Multiple system atrophy is a rare condition. Experts estimate an average of 0.6 to 0.7 new cases per 100,000 people yearly. The estimated number of total cases is between 3.4 and 4.9 per 100,000 people.

How does multiple system atrophy affect my body?

MSA causes deterioration in different brain areas. The symptoms depend on the areas affected. The parts of your brain most commonly affected include:

• Basal ganglia. These are structures near the center of your brain that link many different areas of your brain together. They create a critical network that allows different parts of your brain to work cooperatively.
• Brainstem. Your brainstem is responsible for managing many of your body’s key autonomic processes. You need these elements to stay alive, but your body handles them automatically without you thinking about them. They include breathing, heart rate, blood pressure, etc.
• Cerebellum. This structure at the back of your head helps coordinate movements. It also works cooperatively with other brain areas. Researchers are still learning what it does, but some evidence suggests it even plays a role in other things like emotions and decision-making.

MSA symptoms can vary depending on which areas of your brain this condition affects. As the affected areas deteriorate, you’ll have more and more difficulty with the abilities those areas control. For example, deterioration of your brainstem causes problems with autonomic processes like blood pressure.

What are the symptoms of multiple system atrophy?

Some symptoms of MSA are common across both types of this disease, while others are specific to the type of MSA a person has. The common symptoms in both types of MSA are different types of autonomic dysfunction. This means that your body’s ability to run processes automatically doesn’t work as it should.

Autonomic dysfunction symptoms include:

• Orthostatic hypotension.
• Trouble controlling your bladder, which causes you to pee unintentionally (urinary incontinence), and trouble controlling your bowels, which causes you to poop unintentionally (fecal incontinence).
• Sexual dysfunction, including erectile dysfunction in people who have a penis.
• Rapid eye movement (REM) sleep behavior disorder, similar to sleep problems in Parkinson’s disease.
• Decreased sweating (anhidrosis).
• Vision problems.
• Dry mouth.
• Sleep apnea.
• Slowed digestion and constipation.

Many of the autonomic symptoms of MSA appear months or even years ahead of motor (movement-related) symptoms. This happens in between 20% and 75% of MSA cases.

Cognitive and emotional symptoms

In about one-third of MSA cases, people experience disruptions in their ability to think and concentrate, and with controlling their own emotions. That often leads to mental health issues such as:

• Anxiety.
• Depression.
• Emotional instability, leading to crying or laughing that doesn’t fit the situation.
• Panic attacks.
• Thoughts of self-harm or suicide.

Movement-related symptoms

Cerebellar symptoms of MSA-C usually take the form of ataxia, which is a loss of coordination. The cerebellum is a part of your brain that plays a major role in controlling muscle movements. That loss of coordination can cause the following:

• Limb movements that are clumsy or poorly controlled.
• Action tremor (shaking that gets worse when trying to use the affected body part).
• Unusually wide steps when walking.
• Eye movements that are jerky and uncontrolled (nystagmus).

Parkinsonism symptoms with MSA-P often start on one side of your body and then spread to both sides. These symptoms usually involve the following:

• Slowed movements (bradykinesia).
• Stiffness and rigidity when moving, causing a hunched-over posture.
• Falls while walking.
• Mumbling or unclear speaking.

What causes multiple system atrophy?

Experts don't know exactly why MSA happens. But they suspect it has something to do with a particular protein, α-synuclein (alpha sy-nu-clee-in), that can build up in various parts of your brain. That same protein is one that experts suspect is a key part of the development of Parkinson’s disease.

Proteins are a vital chemical for how your body operates, assisting with communication between different body systems, carrying different chemical compounds throughout your body and more. But when proteins build up in the wrong places, they can cause damage. Experts suspect that damage is what causes the progressive deterioration of brain tissue with MSA.

Scientists are still trying to understand why α-synuclein builds up in certain areas of the brain. They suspect it has to do with genetic mutations that affect how certain cells use α-synuclein. There’s also evidence that MSA-C runs in families. However, experts have yet to uncover evidence of that kind of genetic link with MSA-P.

Is multiple system atrophy contagious?

MSA isn’t contagious, and you can’t spread it to or catch it from others.

How is multiple system atrophy diagnosed?

There’s only one way to definitively confirm MSA: Analyzing brain tissue after a person dies. That’s because it’s impossible to identify a buildup of α-synuclein in areas of the brain while a person is alive.

While a person is alive, healthcare providers may suspect MSA based on that person’s symptoms, medical history, family history and whether or not they respond to certain treatments. It’s common for healthcare providers to initially diagnose a person as having Parkinson’s disease or another form of parkinsonism, and then to revise the diagnosis when other symptoms appear or when certain treatments don’t work.

Some key features that separate MSA from Parkinson’s disease include:

• MSA progresses faster. People with Parkinson’s disease usually take years to develop autonomic dysfunction. With MSA, autonomic dysfunction can start within a year.
• Some symptoms develop differently. Autonomic symptoms in particular are usually more severe with MSA, while tremors are less severe or may not happen at all. The way the symptoms spread throughout your body can also happen differently.
• Treatments don’t work as they should. A drug called levodopa is the main treatment option for Parkinson’s disease. In contrast, MSA doesn’t respond to levodopa as well. This is often a key way healthcare providers recognize that a person has MSA instead of Parkinson’s disease.

What tests will be done to diagnose this condition?

There are very few tests that can help with the diagnosis of MSA directly. Instead, these tests help rule out other conditions or offer evidence supporting diagnosing MSA. Some possible tests include:

• Magnetic resonance imaging (MRI). This test can sometimes show deterioration in areas of your brain, which can help providers narrow down the diagnosis. It’s also useful in diagnosing MSA-C, which can cause a part of your brain to show a criss-cross pattern (experts call this the “hot cross bun” sign). That sign appears as some areas of brain tissue deteriorate while others don’t. However, that sign can appear with other conditions, so this alone isn’t enough to diagnose MSA.
• Genetic testing. This test can show if a person has a mutation that changes how their body processes α-synuclein. Genetic tests are more likely to identify mutations related to MSA-C in people of Japanese descent.
• Skin biopsy. Some types of skin biopsy can pick up signs of α-synuclein buildup in nerve tissue. However, more research is necessary before scientists determine if it’s useful enough to recommend making it a standard part of the diagnostic process.

Your healthcare provider can tell you about other possible tests they recommend and why they think those may help. The information they provide will be the most relevant for your situation, considering your health history, family history and more.

How is multiple system atrophy treated, and is there a cure?

There's no cure for MSA at this time. Instead, treatments almost always focus on keeping symptoms from posing a problem for as long as possible. The possible treatments for MSA symptoms depend on many factors, especially the symptoms a person has and their severity.

What medications or treatments are used?

Many medications can help in treating the symptoms of MSA. The medications you receive depend partly on the symptoms you have, as well as many other factors. Your healthcare provider is the best person to recommend medications to you, as the information they provide will be the most relevant to your situation. They can also explain the possible side effects of the treatments they recommend.

How to take care of myself/manage symptoms?

Multiple system atrophy is a condition that only a trained, qualified healthcare provider can diagnose. Because of that, you shouldn’t try to self-diagnose or manage the symptoms without first talking to a healthcare provider.

How can I reduce my risk or prevent this condition?

Experts don’t know what causes MSA or if there are factors that contribute to having it. Because of that, it’s impossible to prevent it or reduce your risk of developing it.

What can I expect if I have this condition?

People who have MSA will usually develop movement-related symptoms first. This condition gets progressively worse over time. About half of people with this condition need help walking within this time frame. That usually means walking with a cane, walker or another type of assistive device. About 60% of people with MSA need to use a wheelchair about five years after the onset of MSA. Within six to eight years, at least half of those with this condition are bedridden.

As this disease worsens, many people need additional procedures or interventions to maintain or modify body processes and avoid dangerous complications. Some of these interventions include:

• Tracheostomy to preserve breathing ability.
• Tube feeding (enteral nutrition).
• Indwelling catheters or urostomy for urinary incontinence.
• Colostomy for fecal incontinence.

How long does MSA last?

MSA is a permanent condition that lasts the rest of a person’s life. The average survival time for this condition is six to 10 years. In less severe cases, people can survive up to 15 years. However, in very severe cases, survival time may be much lower. These cases usually involve the following features and characteristics:

• Autonomic symptoms that reach severe levels before motor symptoms begin.
• Older age at time of diagnosis.
• Movement symptoms that cause repeated falls.

What is the outlook for this condition?

The outlook for MSA is poor. The symptoms of this condition get progressively worse and always disrupt body function, leading to deadly complications. The complications that may lead to death include:

• Pneumonia.
• Urinary tract infections (UTIs) that lead to sepsis.
• Sudden death (usually at night, because of disruptions in how your brain controls breathing while you sleep).

How do I take care of myself?

People who have MSA have symptoms that get progressively worse. That means people who have this condition can’t live independently once their symptoms reach a certain point. The condition also eventually causes problems with your ability to think, speak and make choices for yourself. Because of all these factors, it’s a good idea to talk with loved ones about your wishes for the future, and to make plans for what should happen with your medical care once you can no longer choose for yourself.

When should I see my healthcare provider?

Many of the earliest symptoms of MSA are ones that you should discuss with your healthcare provider. These include:

• Sexual dysfunction.
• Orthostatic hypotension (or any passing out or dizziness that repeatedly happens without explanation).
• Sleep disturbances and sleep apnea (when you stop breathing while asleep).

If a healthcare provider diagnoses you with a movement condition like Parkinson’s disease, it’s important to talk to them if you notice changes in your symptoms. Your healthcare provider will schedule follow-up visits to monitor your condition, adjust medications, etc. Those visits are an opportunity for you to talk about any changes you’ve noticed in your symptoms. It’s not uncommon for people with a Parkinson’s disease diagnosis to later have that diagnosis modified to MSA because of new symptoms or when the medication levodopa doesn’t help symptoms as it should.

People with MSA often experience other symptoms, especially mental health issues. It’s important to seek care for mental health concerns related to MSA, as well as care for your physical symptoms. Your healthcare provider can help you by recommending treatments or referring you to a provider specializing in mental healthcare.