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Multiple system atrophy

Understanding multiple system atrophy (MSA)

Multiple system atrophy (MSA) is a rare and progressive neurodegenerative disease that impacts balance, movement, and autonomic bodily functions.

Multiple system atrophy (MSA) overview

Multiple system atrophy (MSA) is a rapidly progressing rare disease that causes damage to nerve cells in the brain.1-3

 

A hallmark of MSA is the presence of early autonomic symptoms, such as urinary incontinence, erectile dysfunction, and orthostatic hypotension.2 In addition, people living with MSA exhibit motor symptoms, such as slow movement, rigid muscles, and poor balance.2-5 MSA can sometimes be difficult to distinguish clinically from other disorders such as Parkinson's disease, particularly in the early stages, and is often misdiagnosed.5,9

 

There are two types of MSA that are determined based on the predominant motor symptoms the patient is exhibiting:1-7

  • MSA-P is the Parkinsonian subtype.1 Its symptoms may initially appear to be similar to those seen in Parkinson's disease, and is the most common form of MSA in the United States and Europe. However, MSA-P progresses more rapidly when compared to Parkinson's disease, and is generally not as responsive to typical treatments used to manage Parkinson’s disease.2,4
    • People with MSA-P typically experience symptoms such as:
      • tremors1
      • restless leg syndrome (RLS)1
      • slowness of movement (bradykinesia)1
      • rigidity and muscle stiffness1
      • postural instability, or difficulty maintaining balance1
  • MSA-C is the cerebellar subtype, which involves coordination issues and changes to speech and vision.1 
    • People with MSA-C typically experience symptoms such as:
      • ataxia, or lack of muscle coordination, which can affect movements, speech and eye movements1
      • difficulty maintaining balance and walking2
      • dysarthria, or slurred or slow speech1

Facts about MSA

The hallmark feature of MSA is the presence and buildup of clumps (aggregates) of the alpha-synuclein (a-syn) protein in oligodendroglial cells (a type of brain cell that forms the insulating myelin sheath around neurons).7,10

It is thought that these aggregates lead to cell death and to the neurological degenerative symptoms characteristic of MSA.7,10

The age of onset for MSA is typically between 55-60 years.1,3,5,8,9

Epidemiology and burden

MSA is a rare disease, which means it only affects a very small percentage of the population.2,4 In the U.S., it is estimated that more than 15,000 people have MSA, and the incidence is higher among people over 50 years old.4,12,13

 

MSA is characterized by a complex and progressive set of symptoms that impact movement, balance, and autonomic bodily functions, such as blood pressure and urinary functions.2 The rapid progression of MSA can profoundly impact the daily lives of people and their care partners.

 

As motor and autonomic functions deteriorate, people often experience a swift loss of independence and may be totally dependent on their care partners for basic activities. Care partners can face overwhelming physical and emotional strain, increased stress, and a reduced quality of life due to the demanding nature of continuous care for people with MSA.

 

MSA progression can be swift and unpredictable; most people will end up bedridden within 6-8 years of experiencing symptoms, and many pass away shortly thereafter, generally within 6-10 years.2,3,7,8,10
 

People who are concerned that their loved ones are experiencing symptoms of multiple system atrophy should see their doctor for help and advice.

50%

of people living with MSA require walking aids within 3 years of motor symptom onset.2

6-8 years

is the median time before a person is bedridden after symptom onset.2

Early warning signs

  • MSA can sometimes be difficult to distinguish clinically from other disorders, such as Parkinson's disease, particularly in the early stages, when people living with MSA experience tremors, muscle rigidity or stiffness, and slowness of moving.1-3,5
  • Erectile failure is the most frequent first symptom in men.2,3
  • Bladder control or urinary dysfunction is often one of the earliest symptoms of MSA.2,5,6
  • Sleep disturbances, such as REM sleep behavior disorder (RBD), is an early symptom of MSA that causes an individual to act out their dreams.1,5 Other sleep difficulties, such as snoring, sleep apnea, and stridor, can occur.1 Sleep disturbance is a hallmark of all synucleinopathies, which includes MSA and Parkinson’s disease.
  • Dizziness and lightheadedness, due to neurogenic orthostatic hypotension, may also appear years before motor symptoms.5
  • Cold hands and feet are also a typical early feature of the disease.5
  • Issues with balance and falls will emerge earlier and progress faster for people with MSA than for people with Parkinson’s disease.5

4-5 years

the average time patients may have experienced symptoms prior to diagnosis.3

55-60 years old

is the average age of onset for MSA.1,3,5,8,9

Diagnosis and care

Early symptoms of MSA can be subtle, variable, non-specific, and overlap with other movement disorders, which makes early diagnosis challenging.3,4 People are often misdiagnosed with Parkinson’s disease, ataxia, and other atypical Parkinsonism syndromes and, consequently, delay in diagnosis is common.3-5 This delay may have a significant impact on a person’s quality of life and ability to maintain independence, because it can lead to delays in receiving the most appropriate care.5

 

Many patients may have experienced symptoms, particularly autonomic symptoms, for an average of 4-5 years prior to receiving a diagnosis.3

 

MSA is a devastating neurological condition with no formal treatment guidelines or currently approved treatments.1,7 Patients may be able to manage symptoms to a degree, but there are no available treatments that can slow or stop disease progression.1,7
 

  1. Burns MR, McFarland NR. Neurotherapeutics. 2020;17:1582–1602.
  2. Fanciulli A, Wenning GK. N Eng J Med. 2015;372:249–63.
  3. McKay JH, Cheshire WP. Clin Auton Res. 2018;28:215–21.
  4. Krismer F, Wenning GK. Nat Rev Neurol. 2017;13:232–43.
  5. Palma JA, et al. Auton Neurosci. 2018;211:15–25.
  6. Gilman S, et al. Neurology. 2008;1:670–76.
  7. Mészáros L, et al. Int J Mol Sci. 2020;21:2775.
  8. Wenning GK, et al. Lancet Neurol. 2013;12:264–74.
  9. Fanciulli A, et al. Int Rev Neurobiol. 2019;149:137–92.
  10. Jellinger KA. J Alzheimers Dis. 2018;62:1141–79.
  11. Valera E, Masliah E. Auton Neurosci. 2018;211:1–6.
  12. Low PA, et al. Lancet Neurol. 2015;14:710–19.
  13. Kaplan S, et al. Parkinsonism Relat Disord. 2023 Dec;117:105920.
Margot, Living with Chronic Migraine
Ann, living with multiple system atrophy (MSA)

MSA has taken my autonomy, but not my will

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