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Is SPS Disease Hereditary?

Published in Medical Genetics 2 mins read

Whether Stiff-Person Syndrome (SPS) is directly hereditary is not fully understood, but there's evidence suggesting a genetic connection to autoimmune conditions.

While the exact cause of SPS remains unknown, research points toward it being primarily an autoimmune disorder. Here's a breakdown of the hereditary aspect:

  • Not Directly Inherited: SPS is not typically passed down directly from parent to child in a clear, Mendelian inheritance pattern (like cystic fibrosis or Huntington's disease). You're unlikely to find a family where multiple individuals have SPS across generations.

  • Genetic Predisposition: The stronger likelihood is that individuals may inherit a genetic predisposition to autoimmune disorders in general. This means they might be more susceptible to developing SPS or other autoimmune conditions.

  • Family History of Autoimmunity: There's an observed correlation between SPS and a personal or family history of other autoimmune diseases. This might include conditions like:

    • Type 1 diabetes
    • Autoimmune thyroid disease (Hashimoto's thyroiditis or Graves' disease)
    • Vitiligo
    • Pernicious anemia
    • Celiac disease
  • Research Still Ongoing: The exact genes involved in the development of SPS, and how they interact with environmental factors, are still being actively researched. Future studies may reveal more definitive genetic links.

In summary, while SPS isn't considered a directly hereditary disease, a genetic predisposition to autoimmune disorders within a family may increase the risk of developing SPS. The presence of other autoimmune conditions in the individual or their family members can be a relevant factor.

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