Sneddon Syndrome (SS) is a very rare genetic disorder characterized by ischemic strokes in young adults. While the exact cause isn't fully understood, it's believed to be linked to a change in the CECR1 gene, which is important for producing the adenosine deaminase 2 enzyme.
Understanding Sneddon Syndrome
Here's a more detailed breakdown:
- Rarity: Sneddon Syndrome is exceedingly rare.
- Primary Manifestation: The most prominent feature is recurrent ischemic strokes, often affecting young adults.
- Genetic Link: Research suggests a connection to mutations in the CECR1 gene.
- Enzyme Deficiency: The CECR1 gene is responsible for producing adenosine deaminase 2, an enzyme potentially affected in Sneddon Syndrome.
Key Features of Sneddon Syndrome
| Feature | Description |
|---|---|
| Rarity | Very uncommon disorder. |
| Strokes | Recurrent ischemic strokes, often occurring in young adults. |
| Genetic Cause | Linked to changes in the CECR1 gene. |
| Enzyme | Affects the production of adenosine deaminase 2. |
| Age of Onset | Typically manifests in young adulthood, although it can occur at different ages. |
