juvenile myoclonic epilepsy 4

Juvenile Myoclonic Epilepsy (JME) Description

Myoclonic seizures in JME are characterized by sudden jerks of the muscles in the arms, legs, or whole body. These jerks can be severe enough to make a person drop things, such as cups and utensils.

• The jerks can occur suddenly and without warning.
• They can affect any part of the body, but often involve the arms or shoulders.
• In some cases, the jerks may be mild, while in others they can be quite severe.

These sudden muscle contractions are a hallmark symptom of JME. They can happen at any time, even when a person is awake and alert.

Symptoms of Juvenile Myoclonic Epilepsy

Juvenile myoclonic epilepsy often begins in teenage years with myoclonic seizures, which are often very short. People with this form of epilepsy often go on to have more severe seizures, known as grand mal seizures, in adulthood. These seizures are longer, cause the person to stridden and fall to the ground, and for the limbs jerk in a rhythmic manner.

Types of Seizures

There are 3 different types of seizures that people with JME may get:

• Myoclonic seizures: sudden jerks of the muscles in the arms, legs, or whole body
• Tonic-clonic seizures: longer seizures that cause the person to stridden and fall to the ground, and for the limbs jerk in a rhythmic manner
• Absence seizures: brief loss of consciousness, often appearing as a staring spell

Common Triggers

Lack of sleep and stress are common triggers for myoclonic jerks and generalized tonic-clonic seizures in JME. Mental and emotional stress, especially excitement, can also trigger seizures.

References:

• [4] Symptoms of Juvenile myoclonic epilepsy.
• [6] JME is also associated with generalized tonic-clonic and absence seizures. They may be brought on by lack of sleep, early awakening, alcohol and drug use, ...
• [8] Seizure symptoms include myoclonic jerking of the shoulders, arms and sometimes legs. Absence seizures may also be present. Seizures usually occur early in the ...

Diagnostic Tests for Juvenile Myoclonic Epilepsy (JME)

Juvenile myoclonic epilepsy (JME) is a type of epilepsy that typically begins during childhood or adolescence. The most useful diagnostic test for JME is an electroencephalogram (EEG), which records electrical activity in the brain.

• Electroencephalogram (EEG): An EEG is the primary diagnostic tool for JME. It can record unusual patterns in brain waves, including interictal fast (4-6 Hz) spike and wave and polyspike and wave discharges [9]. The EEG is usually performed while the individual is awake or during sleep-deprived procedures with activation techniques [4].
• Sleep-Deprived EEG: This type of EEG is often used to diagnose JME, as it can help reveal abnormal brain activity patterns that may not be present when the individual is awake.
• No need for other tests: Unlike some other types of epilepsy, JME does not typically require additional diagnostic tests such as brain scans or blood tests [7][8].

It's worth noting that a diagnosis of JME is often made based on clinical evaluation and medical history, rather than solely relying on EEG results. However, an EEG can be a useful tool in confirming the diagnosis and monitoring treatment effectiveness.

References: [4] Feb 15, 2022 — The study of choice for confirming the clinical diagnosis of juvenile myoclonic epilepsy (JME) is sleep-deprived EEG with activation procedures. [7] You don't usually need other tests, such as brain scans or blood tests to diagnose JME. [8] No lab work or genetic testing is needed to make a diagnosis. [9] The EEG shows interictal fast (4-6 Hz) spike and wave and polyspike and wave discharges.

Treatment Options for Juvenile Myoclonic Epilepsy

According to various medical sources, the treatment options for juvenile myoclonic epilepsy (JME) include:

• Levetiracetam: This medication is often considered a first-line option for treating JME. It has been shown to be effective in controlling seizures and improving quality of life.
• Lamotrigine: Another commonly used medication, lamotrigine can be an effective alternative to valproic acid in the treatment of JME. It may also be used as monotherapy or in combination with other medications.
• Topiramate: This anticonvulsant has been found to be effective in treating JME, particularly when used in conjunction with other medications.
• Zonisamide: Although less commonly used, zonisamide can be a viable option for patients who have not responded well to other treatments.

It's essential to note that the choice of medication and treatment plan should be individualized and tailored to each patient's specific needs and circumstances. A healthcare provider will work with the patient to determine the most effective course of treatment.

References:

• [4] by S Auvin · 2007 · Cited by 18 — Treatment of myoclonic seizures in patients with juvenile myoclonic epilepsy
• [5] by A Prasad · 2003 · Cited by 132 — Lamotrigine and topiramate are effective alternative options to valproic acid in the treatment of JME.

Differential Diagnoses for Juvenile Myoclonic Epilepsy

Juvenile myoclonic epilepsy (JME) is a complex condition that can be challenging to diagnose, and it's essential to consider other potential causes. The following conditions are often considered in the differential diagnosis of JME:

• Childhood or juvenile absence epilepsy: This condition is characterized by brief, sudden lapses in consciousness, often accompanied by myoclonic seizures.
• Eyelid myoclonia with absences (EMA): EMA is a rare form of epilepsy that presents with eyelid myoclonus and absences.
• Progressive myoclonic epilepsies: These are a group of rare, inherited conditions characterized by progressive muscle stiffness, seizures, and other neurological symptoms.

According to the International League Against Epilepsy (ILAE), these conditions should be considered in the differential diagnosis of JME [4]. It's crucial for healthcare professionals to carefully evaluate patients with suspected JME to rule out these potential causes and provide an accurate diagnosis.

References: [4] Korff, CM. Juvenile myoclonic epilepsy (JME or Janz syndrome). In: Epilepsy Research, 2019; [online]. Available from: https://www.sciencedirect.com/science/article/pii/B9780128131236000045 [Accessed on 12 Mar 2019]