Jeavons syndrome

Jeavons syndrome is a rare genetic disorder characterized by the onset of photosensitive epilepsy in childhood. It is also known as eyelid myoclonia with absences (EMA).

Symptoms

The primary symptoms of Jeavons syndrome include eyelid myoclonia, absences, and photosensitivity. Eyelid myoclonia is a condition where the eyelids twitch or jerk uncontrollably. Absences are brief, sudden lapses of consciousness. Photosensitivity is an abnormal sensitivity to visual stimuli, such as flashing lights.

Causes

Jeavons syndrome is believed to be caused by a genetic mutation. However, the exact gene responsible has not yet been identified. It is thought to be inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Jeavons syndrome is based on the presence of the characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include electroencephalogram (EEG), which measures the electrical activity of the brain.

Treatment

Treatment of Jeavons syndrome is aimed at managing the symptoms. This may include medications to control seizures and manage photosensitivity. In some cases, surgery may be necessary.

Prognosis

The prognosis for individuals with Jeavons syndrome varies. Some individuals may experience a decrease in symptoms over time, while others may continue to experience symptoms throughout their lives.

See also

• Epilepsy
• Genetic disorders
• Photosensitivity

References

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External links

• Epilepsy Foundation: Jeavons Syndrome
• National Organization for Rare Disorders: Jeavons Syndrome

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