Is Multiple System Atrophy (MSA) Hereditary or Genetic?

Multiple system atrophy (MSA) is overwhelmingly considered a sporadic disease, which means it occurs randomly and is not passed down from parents to children ^[1][2]. If you have been diagnosed with MSA, there is currently no evidence to suggest that your children are at a heightened risk of developing the condition compared to the general population ^[1][2].

When patients are diagnosed with a severe neurodegenerative disease, it is completely natural to worry about the health and future of their family members. However, unlike certain other neurological conditions that have clear genetic links, MSA does not have a well-established hereditary cause ^[3][4]. Because MSA is not genetic, it is important to know that you did not do anything to trigger this disease; the exact cause simply remains a medical mystery ^[1].

What Does “Sporadic” Mean?

In medicine, a sporadic condition is one that happens by chance. It means there is no clear family history of the disease and no predictable pattern of inheritance ^[1]. Large-scale genetic studies, which scan the DNA of thousands of people, have generally failed to identify any common genetic mutations that directly cause MSA, though they have occasionally identified some minor risk factors ^[3].

MSA belongs to a group of diseases where a specific protein (called alpha-synuclein) builds up abnormally in the brain ^[5][6]. Because of this protein buildup, researchers often compare MSA to Parkinson’s disease ^[5]. While Parkinson’s disease has several known genetic forms that can be inherited, MSA is driven by different mechanisms that remain largely sporadic rather than hereditary ^[5][4].

Are There Any Exceptions?

While MSA is not considered hereditary, you may come across research discussing genetics and MSA. It is helpful to understand the context of these studies:

• Extremely Rare Familial Cases: There are a very small number of documented reports in medical literature where MSA has appeared in multiple members of the same family ^[7][8]. However, these cases are considered exceptionally rare and do not represent the typical presentation of the disease ^[1][8].
• The COQ2 Gene: Researchers have investigated certain genes, most notably the COQ2 gene, as a potential risk factor ^[4]. Variations in this gene have been linked to a slightly higher risk of developing MSA in specific populations, such as Japanese cohorts ^[9][10]. However, this connection has not been consistently found in other populations, and simply carrying this genetic variation does not mean a person will definitely develop the disease ^[11][4].
• MSA “Mimics”: Sometimes, other inherited diseases that cause clumsiness and poor coordination can be mistaken for MSA ^[12]. If you have a strong family history of movement disorders, your doctor may order genetic testing to rule out these “mimic” conditions ^[12][13]. You may also want to ask your neurologist about speaking with a genetic counselor.

The Bottom Line

For the vast majority of people with MSA, the disease is a random occurrence. You can be reassured that your diagnosis does not mean you will pass the condition on to your children ^[1][2].

Because the disease is sporadic, your children do not need to undergo genetic screening or preventative neurological monitoring for MSA ^[1]. If you are looking for a simple way to share this news with your family, you can tell them: “My doctors have assured me this disease occurs randomly, and you are not at risk.”