Juvenile myoclonic epilepsy

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Juvenile Myoclonic Epilepsy

Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common type of epilepsy that starts in adolescence or early adulthood. Pronounced as "joo-vuh-nl my-uh-klo-nik ep-uh-lep-see", the term is derived from the Greek words "myo" (muscle), "clonus" (violent, irregular motions), and "epilepsy" (seizure).

Definition

Juvenile myoclonic epilepsy is characterized by myoclonic seizures, generalized tonic-clonic seizures, and sometimes, absence seizures. The seizures often occur upon waking or early in the morning.

Symptoms

The primary symptom of JME is brief, involuntary twitching of a muscle or group of muscles. These myoclonic jerks often occur in the morning just after waking. Other symptoms may include generalized tonic-clonic seizures and absence seizures.

Causes

The exact cause of JME is unknown, but it is believed to be largely genetic in nature. Some studies suggest a link between JME and mutations in the GABRA1, EFHC1, and CSTB genes.

Diagnosis

Diagnosis of JME is typically based on the patient's clinical history, the age at onset, and the pattern of seizures. An electroencephalogram (EEG) is often used to confirm the diagnosis.

Treatment

Treatment for JME typically involves lifelong medication to control seizures. Commonly prescribed medications include valproic acid, lamotrigine, and levetiracetam.

Prognosis

With appropriate treatment, most individuals with JME can achieve good seizure control. However, the condition is chronic and lifelong.

See also

References

External links

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