Multiple System Atrophy
Multiple system atrophy is a rare and progressive brain disease that causes parts of the brain to deteriorate over time, affecting movement, balance, and the body’s automatic functions like blood pressure and digestion. Though there is currently no cure, treatments and support can help manage symptoms and maintain quality of life for as long as possible.
Table of contents
- What is Multiple System Atrophy?
- Other Names for This Condition
- Who Gets Multiple System Atrophy?
- How Multiple System Atrophy Affects the Brain
- Symptoms of Multiple System Atrophy
- Types of Multiple System Atrophy
- How Multiple System Atrophy is Diagnosed
- Treatment and Management
- What to Expect
- Living with Multiple System Atrophy
What is Multiple System Atrophy?
Multiple system atrophy, often called MSA, is a rare disease that causes certain areas of the brain to break down and stop working properly[1]. The term “multiple system” refers to the fact that several different parts of the nervous system are affected at the same time[2].
MSA is classified as an atypical parkinsonian disorder, which means it shares some symptoms with Parkinson’s disease but is actually a different condition[2]. It is also classified as an alpha-synucleinopathy, a type of disease characterized by the buildup of a protein called alpha-synuclein in the brain[13].
The disease is progressive, meaning it gets worse over time[1]. It is also neurodegenerative, which means that nerve cells in the brain and spinal cord gradually lose their function and die[2].
Other Names for This Condition
Shy-Drager syndrome, olivopontocerebellar atrophy, striatonigral degeneration
In the past, multiple system atrophy was known by different names depending on which symptoms were most prominent[1][3]. These older names included Shy-Drager syndrome, olivopontocerebellar atrophy, and striatonigral degeneration. Experts later realized these were all forms of the same disease and combined them under the single name “multiple system atrophy”[3].
Who Gets Multiple System Atrophy?
Multiple system atrophy is a rare condition. It affects an estimated 0.6 to 0.7 new people per 100,000 each year[8]. In the United States, approximately 25,000 to 75,000 Americans are living with MSA, with about 10,000 new cases diagnosed annually[4].
The disease affects adults, and symptoms usually begin in a person’s 50s or 60s[1]. More specifically, MSA most commonly starts between ages 50 and 59[3]. It rarely affects people under age 30[12]. The condition does not affect men and women differently[3].
There is no evidence that MSA can be passed from parents to children[12]. The disease appears to occur randomly without a clear inherited pattern.
How Multiple System Atrophy Affects the Brain
- Basal ganglia
- Brainstem
- Cerebellum
- Spinal cord
Multiple system atrophy causes damage to several important areas of the brain and spinal cord[3]. The main areas affected include the basal ganglia, structures near the center of the brain that help different brain areas work together; the brainstem, which controls automatic body processes like breathing, heart rate, and blood pressure; and the cerebellum, a structure at the back of the head that helps coordinate movements[3].
As these brain areas deteriorate, people have more and more difficulty with the functions those areas control[3]. For example, when the brainstem is affected, the body loses its ability to automatically control blood pressure, leading to dizziness when standing up.
Under the microscope, the hallmark finding in MSA is the presence of glial cytoplasmic inclusions (GCIs)[5]. These are abnormal clumps of the protein alpha-synuclein that build up inside cells called oligodendrocytes in the brain[5][8].
Symptoms of Multiple System Atrophy
Multiple system atrophy affects many parts of the body, and symptoms can vary from person to person[1]. The initial symptoms that bring patients to medical attention typically involve problems with balance and movement, or issues with the body’s automatic functions[5].
Common symptoms include stiff muscles, trouble bending the arms and legs, slow movement (called bradykinesia), and tremors[1]. Many people also experience slurred, slow, or soft speech, known as dysarthria[1].
Problems with the autonomic nervous system, which controls involuntary body functions, are very common in MSA[2]. These include orthostatic hypotension, a drop in blood pressure when standing up that can cause dizziness, lightheadedness, or fainting[1][4]. People may also have bladder control problems, including frequent urination, urgency, and feeling unable to empty the bladder completely[2][4].
Other common symptoms include erectile dysfunction in men[4], constipation[1], difficulty swallowing or chewing[1], and problems regulating body temperature, causing people to feel too hot or too cold[1].
Sleep problems are also frequent, including noisy breathing, unintentional sighing, snoring, and a condition called REM sleep behavior disorder, where people act out their dreams during sleep[1][4].
Some people develop additional symptoms such as a posture where the body leans involuntarily to one side (called Pisa syndrome), a forward-bent neck (called anterocollis), anxiety, depression, or unpredictable laughing or crying[2].
Types of Multiple System Atrophy
Multiple system atrophy is divided into two main types based on which symptoms are most prominent when a person is first diagnosed[1][5].
MSA-P (Parkinsonian type) is the most common form[1]. In this type, the main symptoms are similar to those of Parkinson’s disease, including stiff muscles, slow movement, tremors, and trouble with posture and balance[1][2]. People with MSA-P also experience problems with the autonomic nervous system, such as urinary difficulties and blood pressure changes[2].
MSA-C (Cerebellar type) primarily affects muscle coordination[1]. The main symptom is poor coordination, called ataxia, which causes trouble with movement and loss of balance[1]. People may have difficulty walking steadily and may appear to have a staggering, unsteady gait[1]. This type also includes slurred speech, vision changes such as blurred or double vision, and autonomic dysfunction[1][3].
Both types of MSA include problems with the autonomic nervous system and can have overlapping symptoms[3]. The distinction between types is based on which set of symptoms is most prominent early in the disease.
How Multiple System Atrophy is Diagnosed
Diagnosing multiple system atrophy can be challenging, especially early in the disease[5][7]. Many of the symptoms, such as stiffness and trouble walking, can occur in other diseases, particularly Parkinson’s disease[7]. The most common initial misdiagnosis is Parkinson’s disease[5].
The diagnosis is based mainly on clinical features observed during a medical examination[5]. A doctor will review your medical history, including your symptoms and how they have progressed, and perform a physical examination[17]. Testing of autonomic functions, such as blood pressure control, is an important part of the evaluation[7].
There is no specific test that can definitively diagnose MSA on its own[17]. However, several tests can support the diagnosis or rule out other conditions. A brain MRI can show changes in parts of the brain affected by MSA, though these changes may not appear in the early years of symptoms[17].
A tilt table test may be used to evaluate blood pressure control[7]. During this test, you are placed on a motorized table that tilts upward while your blood pressure and heart rate are monitored to see how they respond to the position change[7].
Other tests that may be used include blood tests, tests to evaluate sweating and bladder function, an electrocardiogram to track heart signals, and sometimes a sleep study[7]. A doctor may also order specialized scans such as a DaTscan or PET scan to help support the diagnosis[17].
Because MSA is rare and difficult to diagnose, you may be referred to a neurologist or movement disorder specialist for further evaluation[7]. Many people with MSA face a long journey before receiving the correct diagnosis[17].
Treatment and Management
There is currently no cure for multiple system atrophy, and no treatment can stop or reverse the progression of the disease[5][8]. However, various treatments and supportive measures can help manage symptoms and improve quality of life[1].
Treatment focuses mainly on relieving symptoms[5]. Medications can be prescribed to help with movement problems, although people with MSA often respond less well to Parkinson’s medications than people with Parkinson’s disease itself[5].
For orthostatic hypotension (low blood pressure when standing), treatment may include increasing salt and fluid intake, wearing compression stockings, elevating the head of the bed, and medications to help raise blood pressure[8].
Bladder problems can be managed with medications, and constipation can be addressed through diet changes and medications[5]. Speech therapy can help with swallowing difficulties and communication problems[7].
Physical therapy and occupational therapy are important parts of care[7][12]. Physical therapists can provide exercises to help maintain mobility, prevent falls, and keep muscles strong[7]. Occupational therapists can recommend equipment and home modifications to help with daily activities and safety[15].
Because MSA affects multiple body systems, care is best provided by a team of healthcare professionals working together[8]. This team may include a neurologist, physical therapist, occupational therapist, speech therapist, dietitian, and social worker[15].
Research into disease-modifying therapies is ongoing, with particular focus on treatments targeting alpha-synuclein, as well as therapies addressing inflammation and other aspects of the disease[8][10]. Clinical trials are testing various approaches, including immunotherapy and stem cell treatments[11].
What to Expect
Multiple system atrophy is a progressive disease, meaning symptoms worsen over time[2]. Symptoms tend to advance rapidly, typically over the course of five to 10 years[2]. Most people will require aids for walking, such as a cane or walker, within a few years after symptoms begin[2].
The estimated survival from the start of symptoms is six to 11 years, with a median survival of about nine and a half years[8]. The disease is usually fatal within 10 years, though this can vary depending on the severity and individual circumstances[3].
As the disease progresses, people have increased difficulty with movement and eventually may become bedridden[2]. Swallowing problems can develop, which may lead to pneumonia in later stages of the disease[2].
MSA progresses more rapidly than Parkinson’s disease[2]. However, the course of the disease can vary from person to person, and the type of support needed will differ based on individual symptoms[12].
Living with Multiple System Atrophy
Living with multiple system atrophy requires adjustments and support from healthcare professionals, family, and community resources[15]. Your care team will work with you to create a personalized care plan based on your specific symptoms and needs[7].
Connecting with support groups can be helpful for both people with MSA and their caregivers[12]. Organizations such as the MSA Trust provide information, support services, and resources for people affected by MSA[12]. Many groups offer both in-person and online support options.
As the disease progresses, you may need help with daily activities and personal care[12]. Social workers can help connect you with community services and resources for home care, medical equipment, and financial assistance[15].
It’s important to discuss your wishes for care with your family and healthcare team, including planning for future care needs[15]. Many people find it helpful to address emotional and practical concerns with counselors or support groups who understand the challenges of living with MSA.
