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Is SPS Genetic?

Published in Medical Genetics 2 mins read

While it's known that SPS (Stiff Person Syndrome) runs in families, the specific genetic cause is not yet understood. This means that although a familial connection exists, the exact gene or genes responsible have not been identified.

Understanding the Familial Aspect of SPS

It's important to distinguish between a condition running in families and it having a definitive, identified genetic cause. Here's a breakdown:

  • Runs in Families: This means that the condition occurs more frequently among people who share a bloodline. It suggests that there's a hereditary component, possibly involving genetics.
  • Specific Genetic Cause: This means researchers have pinpointed a specific gene or mutation that directly leads to the condition.

Currently, while SPS clearly seems to have a familial connection, the specific gene(s) responsible haven't been discovered.

What This Means For Families

The fact that SPS runs in families raises concerns and questions for people who may have relatives with the condition.

Here's how to address this:

  • Genetic Counseling: If there's a family history of SPS, adult family members can ask their doctor for a referral to a genetic service. These services can assess the family history and offer insight into the chance of an individual developing the condition.
  • Not a Definitive Test: At present, because the specific genetic cause is unknown, there is no test to definitively determine someone’s risk of developing SPS.

Table Summarizing SPS Genetic Status

Feature Description
Familial Link SPS runs in families
Specific Genetic Cause Unknown; no specific gene(s) has been identified.
Genetic Testing Currently, no definitive test exists.
Genetic Counseling Useful for assessing family history and understanding potential risks

In conclusion, while SPS demonstrates a clear familial pattern, the specific genetic cause is not yet known. Further research is needed to identify the responsible genes.

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