Rare Gene Mutation Linked to Unusual Movement Disorder in Infants
⚠️ Infant dosing/safety: medication and diet decisions for infants require individualized medical guidance.
Source: Journal of child neurology
Summary
Researchers studied a patient with unusual movement problems linked to a change in the PRRT2 gene. This gene is known to be involved in various movement disorders and epilepsy. The patient, a 5-month-old baby, experienced jerking movements and seizures, which led to a visit to the emergency room. Genetic testing confirmed a specific mutation in the PRRT2 gene.
The key finding from this case is that the baby had a mutation in the PRRT2 gene that caused both movement issues and seizures. The jerking movements, known as paroxysmal dyskinesia, happened frequently and did not always have a clear trigger. Fortunately, the baby's symptoms improved with a low dose of a medication called carbamazepine, which is often used to treat seizures.
This study is important because it highlights how a specific genetic mutation can lead to a range of symptoms, including severe movement disorders and epilepsy. Understanding these connections can help doctors provide better care for patients with similar issues. However, this is just one case, so more research is needed to see if these findings apply to other patients with PRRT2 mutations.
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