Multiple System Atrophy (MSA)
Multi-system atrophy (MSA) is a rare, rapidly progressive neurodegenerative disorder that affects the central and autonomic nervous systems. It impacts several organ systems, primarily those responsible for movement, balance, and involuntary functions such as bladder control, heart rate, and blood pressure regulation. MSA affects multiple body systems, leading to widespread dysfunction throughout the body. It typically resembles Parkinson’s disease at first, but progresses more rapidly and affects a greater number of body parts.
MSA is caused by the degeneration of nerve cells in specific areas of the brain, including the basal ganglia, cerebellum, and brainstem. The exact cause of MSA is unknown, but it is associated with the abnormal accumulation of a protein called alpha-synuclein in glial cells. As such, MSA patients develop a range of complex and incapacitating signs that progressively worsen.
MSA was formerly known as Shy-Drager syndrome, olivopontocerebellar atrophy, or striatonigral degeneration.
Early Symptoms Detection
MSA symptoms often begin in the early stages with non-motor symptoms and sleep disturbances, typically manifesting in people in their 50s, but they can occur as early as a person’s 30s or as late as their 70s. Early indicators are spells of fainting, difficulty with balance, or loss of bladder control. In the early stages, symptoms can be mild or absent, making diagnosis challenging. What is so challenging with MSA is that the early symptoms are subtle, impersonation of another illness, and therefore are late in being diagnosed.
As symptoms begin, they may progress from non-motor issues to more noticeable problems. Gradually, movement becomes rigid and slow; speech becomes delayed, and one experiences a loss of control over voluntary body functions. Depending on which part of the brain is more severely impacted, the development may range from impairment in coordination to Parkinson-type tremors or even respiratory abnormalities.
Types of MSA and Characteristics
MSA is divided into two general types according to the most prominent symptoms, which are used to classify the disease and help differentiate subtypes.
Parkinsonian Type
In MSA-P, or Parkinsonian type, the patient has motor symptoms such as muscle stiffness, slowness, bradykinesia, rigidity, and sometimes tremor, usually mimicking Parkinson’s disease. These symptoms MSA are mainly due to involvement of the area of the brain responsible for motor control.
Cerebellar Type
MSA-C, or cerebellar type, is characterized by prominent symptoms like coordination and balance deficits, such as ataxic gait, dysarthric speech, and defective fine motor skills. Symptoms MSA in this subtype are primarily related to cerebellar dysfunction.
In most patients, a combination of signs eventually develops, and long-term classification becomes challenging. Though both types differ in this respect, they both progress rapidly.
Autonomic Nervous System Dysfunction
One of the earliest and most typical symptoms of MSA is failure of the autonomic nervous system, often referred to as autonomic symptoms. These autonomic symptoms typically become evident even before movement problems and are often the reason why people seek medical help in the first place.
Many of the autonomic symptoms of MSA appear months or even years before motor symptoms. Patients may present with dizziness when standing, lightheadedness, or even syncope owing to a sudden reduction in blood pressure. Autonomic dysfunction symptoms can include urinary urgency, blood pressure issues, and sleep disturbances. Others experience bladder control difficulties, sexual dysfunction, and sweating.
In men, erectile failure may occur relatively early. These are manifestations of the body’s inability to regulate processes that are usually automatic, with a significant impact on daily living and independence.
Core symptoms of MSA include orthostatic hypotension, bladder dysfunction, and sleep disturbances.
What Causes MSA?
The exact cause of MSA is not known, but age is considered a primary risk factor, as the condition most commonly affects people in their 50s and 60s. Scientists believe that the abnormal accumulation of a protein called alpha-synuclein in glial cells is central to MSA. This protein forms undefined clumps in MSA and kills neurons. The same protein is implicated in other conditions such as Parkinson’s disease and dementia with Lewy bodies, but in MSA, it involves deposition across a broader spectrum of systems. Ongoing research is currently focused on finding ways to prevent and treat alpha-synuclein from building up and spreading throughout the brain. The speed of progression during the earlier stages of MSA may relate to the rate of buildup of this abnormally folded protein.
At this stage, there is no substantial evidence that MSA is genetic. Most cases are sporadic, meaning they occur randomly without any evident genetic etiology. Environmental toxins have also been investigated, but no direct link has been established.
Diagnosis and Clinical Evaluation
Multiple system atrophy diagnosis can be challenging because it is part of a group of movement disorders with symptoms that overlap with other neurodegenerative diseases, including other movement disorders like Parkinson’s disease. Doctors often diagnose MSA by recognizing a combination of symptoms and test results while ruling out other conditions that can cause similar symptoms. A doctor may order tests to support the diagnosis of MSA, which might include blood pressure measurements and neurological examinations. There is no definitive test for MSA; therefore, clinicians must rely on clinical history, physical examination, and exclusion of different disease conditions.
MRI scans may reveal classical changes in the brain, including cerebellar or brainstem atrophy. Individual dysfunctions typical of MSA can be seen in tests such as autonomic function tests or bladder studies.
Since MSA patients do not react to drugs used for Parkinson’s disease, such as levodopa, this lack of response can similarly serve as an indicator of the disease. Early diagnosis is still problematic, and in some instances, diagnosis comes after death through post-mortem examination of the brain tissue.
Why Research Holds Promise
Research continues to reveal more about the biology of MSA, and this may lead to earlier diagnosis and ultimately successful treatment. Researchers are experimenting with drugs that can halt the progression of disease or rescue brain cells from destruction. There is also research that could result in earlier diagnosis of MSA. Clinical trials are only one way patients can contribute to results that may change the treatment or management of MSA in the future.
Common Complications in MSA
As the disease worsens, the complications that develop are:
- Impairment in swallowing can lead to choking and aspiration pneumonia.
- Difficulty breathing, particularly at night, can progress to respiratory failure.
- Malnutrition results from compromised eating and digestion.
- The inability to move, which is often possible, pushes many into wheelchairs within several years of onset.
- Mental changes, depression, or anxiety may go along with the physical decline.
These complications significantly reduce quality of life and lifespan. Most individuals with MSA survive 6 to 10 years following the onset of symptoms, although this can vary.
Treatment and Supportive Care
Although there is no cure for MSA, the treatment of multiple system atrophy focuses on managing symptoms and improving quality of life. Treatment is tailored to each person’s symptoms, and a multidisciplinary management approach is often used for treating MSA. Access to specialized neurologists and physical/speech therapists is essential for effective MSA management. Treatment usually encompasses:
Medication
Medications for blood pressure, bladder control, and for sporadic Parkinson-like symptoms.
Physical Therapy
Physical therapy is important to prevent falls and maintain gait, as well as to preserve strength and flexibility.
Occupational Therapy
Occupational therapy can help improve daily living activities for MSA patients.
Speech Therapy
Speech therapy assists with speech and swallowing functions, providing greater clarity and support.
Comfort
Tube feeding or respiratory support in advanced stages of disease.
Psychiatric Treatment
Psychiatric treatment to cope with emotional stress.
Sophisticated support systems and care planning are essential to help families address the growing needs of MSA patients. Treatment for MSA focuses on managing symptoms and improving quality of life.
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