Multiple system atrophy

Multiple system atrophy (MSA), formerly called Shy-Drager syndrome, is a rare condition of the brain and nervous system. MSA affects the body’s ability to control automatic processes (body functions that you don’t have to think about) such as breathing, digestion, heart rate, movement, and blood pressure.

Multiple system atrophy causes specific regions of the brain to deteriorate: 

• Basal ganglia: These structures link different areas of the brain to control bodily functions, such as movement, learning, memory, and emotional processing. 
• Brainstem: This lower region of the brain controls breathing, heart rate, blood pressure, and other important processes. 
• Cerebellum: This region in the back of the brain coordinates movement and balance. 

MSA affects many different body systems, causing a variety of symptoms that worsen over time. MSA is one of the atypical parkinsonism disorders, meaning that early symptoms are often very difficult to distinguish from those of Parkinson’s disease.

There are two forms of MSA: the more common parkinsonian type (MSA-P) and the cerebellar type (MSA-C).

Symptoms of MSA-P are similar to those of Parkinson’s disease:

• Muscle stiffness and rigidity
• Poor balance, posture, and frequent falls
• Slow movement
• Tremors (either at rest or during movement)
• Vocal changes (lower volume)

Symptoms of MSA-C result from lack of control of motor movement:

• Difficulty walking
• Loss of balance and frequent falls
• Problems with coordinating movement (ataxia)
• Problems swallowing (dysphagia)
• Slurred, slow, or lower volume speech (dysarthria)
• Vision changes (blurry vision, problems focusing eyes, double vision)

People with both types of multiple system atrophy experience problems with automatic processes in the body. These difficulties produce symptoms including:

• Constipation, loss of bladder and bowel control (incontinence)
• Decline in mental function
• Difficulty regulating body temperature/decreased sweating
• Loss of libido (sex drive) or impotence (maintaining an erection)
• Poor circulation in the hands and feet
• Postural orthostatic hypotension (very sudden drops in blood pressure after changes in body position)
• Problems controlling emotions (laughing or crying without reason)
• Sleep disturbances, such as breathing difficulties due to sleep apnea or restless legs

MSA progression varies from person to person. Some people only show mild symptoms while others may experience more severe symptoms during early stages. Problems with the automatic (autonomic) processes often occur before problems with movement. 

The speed of progression during the earlier stages of MSA may relate to the rate of buildup of an abnormally folded protein called alpha-synuclein. This protein accumulates within the nerve cells in affected brain regions, causing irreversible damage. 

There is no single test for multiple system atrophy—a combination of tests can help rule out other conditions and confirm the diagnosis: 

• Biopsy: A skin biopsy may show alpha-synuclein buildup in nerve tissues within the skin. Biopsy is not a standard requirement for MSA diagnosis. 
• Genetic testing: Scientists have identified two genes (SCNA and COQ2) associated with MSA. 
• Imaging studies: Magnetic resonance imaging (MRI) studies of the brain can reveal areas of deterioration and atrophy (wasting). If atrophy occurs in the basal ganglia, brainstem, and cerebellum, doctors may more strongly suspect MSA. 
• Laboratory tests: Levels of the neurotransmitter norepinephrine may be lower than normal in people with MSA. Doctors may look at the level of norepinephrine in the blood plasma and products of norepinephrine breakdown in the urine. 
• Tests for autonomic dysfunction: 
  • Blood pressure measurements can detect significant drops in blood pressure after positional changes (postural orthostatic hypotension). These measurements can occur during a tilt table test or during a clinical exam after changing body position. 
  • Electrocardiograms (EKGs) detect problems with electrical signaling that cause abnormal heart rhythms. 
  • Sweat testing assesses how well the body regulates internal temperature through sweat production. 
  • Bladder or bowel function tests can help assess autonomic function. 

There are no treatments to cure or stop progression of MSA, but treatments may help manage symptoms and improve quality of life. 

• Oral medications: Medications can help manage MSA symptoms such as movement problems, orthostatic hypotension, urinary urgency and bladder control, and sleep disturbances. 
• Botulinum toxin injections: These injections temporarily weaken or paralyze specific muscles. This may help reduce isolated tremors or fixed postures due to muscle stiffness. 
• Lifestyle modifications: Wearing compression socks, adding extra salt and fluid intake to the diet, raising the head of the bed, and moving slowly and deliberately when changing positions can help minimize dizziness and fainting. 
• Rehabilitative therapies: Physical therapy exercises can help improve balance, posture, and mobility while decreasing muscle spasms and tension. Occupational therapy can help individuals with MSA maintain independence and safety with daily activities and mobility for as long as possible. Speech therapy can identify exercises and strategies to address difficulties with speech and swallowing.