PRRT2-related disorders include a range of conditions that mainly affect movement and can cause seizures. The most well-known disorders linked to PRRT2 are BFIS, which causes seizures in babies, and PKD, where people have sudden movement problems. There are also other related issues like hemiplegic migraine and more serious types of epilepsy.
BFIS shows up as different kinds of seizures in babies who are developing normally, starting around 6 months old and usually going away by the time they turn 2 years old. PKD is marked by episodes where a person can't control their movements, lasting from a few seconds to minutes. These episodes are often triggered by quick movements. At first, some people may have up to 100 episodes in one day! During an episode, they might experience various involuntary movements like twisting their bodies or making quick or slow writhing motions. These movements can affect arms, legs, and even facial muscles.
Symptoms usually start in childhood or teenage years—typically between ages 5 and 15—but this can vary widely from person to person. Some individuals may have many episodes while others may have them rarely, which makes it harder to diagnose and treat these conditions.
Most people with PRRT2-related disorders have normal thinking abilities throughout their lives. However, there are some reports of mild learning difficulties for certain individuals. Because these disorders can run in families (autosomal dominant inheritance), it's common to find family members who also have similar movement issues or epilepsy.
PRRT2