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Quick Overview of Seizures in JoHD at Help 4 HD Symposium:




The focus of this discussion was to provide you with the right vocabulary and tools to communicate effectively with your physicians about seizures.

To start, let's define what a seizure is. The brain consists of various neurons that communicate with each other to send signals to your body, instructing you to move your hand or leg, for example. A seizure occurs when these neurons try to communicate at the same time, resulting in an abnormal electrical discharge in the brain. This discharge can manifest in different ways, though not always. Sometimes, the only evidence of a seizure may be visible on an EEG.

In children, seizures are even more prevalent. Many types of epilepsy that affect children are outgrown, which is why they appear less frequently in adults. For example, febrile seizures are common in young children but don't necessarily mean they will develop epilepsy later. Earlier, we mentioned that seizures are a unique feature of juvenile onset Huntington's disease (JOHD). While not the most common presenting symptom, it can be one of the first signs that a parent notices. Research suggests that up to 30-40%—and potentially even 50%—of children with JOHD may eventually develop epilepsy. This is significant because seizures can lead to hospitalizations and cause considerable distress for families. The occurrence of seizures correlates with higher CAG repeat counts (a genetic marker) and is more common when symptoms begin at a younger age. I've also contributed to the diagnostic criteria for childhood-onset JOHD, which includes vocabulary about seizures.

When we discuss seizures, we generally categorize them into two main types:

1. **Generalized epilepsy**: This type starts in the entire brain all at once. During a generalized seizure, the person loses consciousness and is unable to interact with their surroundings.

2. **Focal seizures**: These start in one specific part of the brain and might remain localized, meaning that only one part of the body (like a hand) may shake. In some cases, the person may still be aware and able to interact, which can be confusing. Focal seizures can also spread and eventually affect the entire brain, leading to a loss of consciousness. In JOHD, children can experience various types of seizures.

The three most common include: - *Generalized tonic-clonic seizures**: Previously known as grand mal seizures, these involve both stiffening (tonic) and rapid movements (clonic). When both occur together, it results in the generalized shaking associated with larger seizures. - *Myoclonic seizures**: These are brief, quick jerks that can be related to seizures but can also occur as myotonic jerks, which are movement disorders and do not involve abnormal brain discharges. This distinction can be particularly challenging to discern in JOHD. - **Absence seizures**: These are characterized by staring spells.

Understanding these various seizure types and the broader implications can help facilitate better discussions with healthcare providers about diagnosis and treatment options.

To watch the full talk: https://youtu.be/JYFjGwkB4Og

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