Summary about Disease
Jeavons syndrome, also known as Eyelid Myoclonia with Absences (EMA), is a rare type of epilepsy characterized by brief, involuntary jerks of the eyelids (eyelid myoclonia) often accompanied by brief absences (periods of staring and unresponsiveness). It typically begins in childhood or adolescence.
Symptoms
Eyelid Myoclonia: Rapid, rhythmic jerking or fluttering of the eyelids, often induced by eye closure or light sensitivity.
Absences: Brief periods of staring, unresponsiveness, or impaired awareness. These may be subtle and go unnoticed.
Photosensitivity: Sensitivity to light, which can trigger seizures.
Eye Closure Sensitivity: Seizures are provoked by closing the eyes.
Occasional Generalized Tonic-Clonic Seizures: While less common, some individuals may experience generalized seizures involving stiffening and jerking of the body.
Causes
The exact cause of Jeavons syndrome is unknown. Genetic factors are thought to play a significant role, but specific genes have not yet been definitively identified. In many cases, there is no family history of epilepsy. Current research suggests a complex interplay of genetic predisposition and environmental influences.
Medicine Used
Valproic Acid: Often considered a first-line treatment.
Ethosuximide: May be used, particularly for absence seizures.
Lamotrigine: Can be effective for some individuals.
Levetiracetam: Another option that may be considered.
Clobazam: Benzodiazepine that can be used as an add-on medication. Note: It is crucial to consult a neurologist specializing in epilepsy to determine the most appropriate medication or combination of medications, as treatment response varies.
Is Communicable
No, Jeavons syndrome is not communicable. It is not an infectious disease and cannot be spread from person to person.
Precautions
Avoid Triggers: Identify and avoid factors that trigger seizures, such as flashing lights or prolonged eye closure.
Medication Adherence: Take prescribed medications exactly as directed and do not stop or adjust the dosage without consulting a doctor.
Adequate Sleep: Maintain a regular sleep schedule and get sufficient rest, as sleep deprivation can increase seizure risk.
Avoid Alcohol and Recreational Drugs: These substances can lower the seizure threshold.
Inform Others: Educate family members, friends, and school/work personnel about Jeavons syndrome and how to respond to a seizure.
Wear Medical Identification: Consider wearing a medical ID bracelet or necklace that identifies the condition and lists emergency contact information.
How long does an outbreak last?
Jeavons syndrome is a chronic condition, not an "outbreak". Individuals with Jeavons syndrome experience ongoing seizures unless the condition is well-controlled with medication. The duration of individual seizures is typically very brief (seconds to minutes).
How is it diagnosed?
Clinical Evaluation: A neurologist will assess the patient's medical history, symptoms, and seizure patterns.
Electroencephalogram (EEG): This test records brain activity and can identify characteristic EEG patterns associated with Jeavons syndrome, such as generalized spike-wave discharges, particularly after eye closure. Photosensitivity is also typically evaluated during the EEG.
Video-EEG Monitoring: Continuous EEG recording with video monitoring can capture seizure events and provide a more detailed assessment of seizure semiology.
Magnetic Resonance Imaging (MRI): Brain imaging may be performed to rule out other underlying causes of seizures.
Genetic Testing: While not yet routine, genetic testing may be considered in some cases to investigate potential genetic causes.
Timeline of Symptoms
Onset: Typically begins in childhood or adolescence (around 6-12 years old, but can vary).
Early Symptoms: Often presents with subtle eyelid myoclonia that may initially be overlooked. Absence seizures may also be subtle and difficult to detect.
Progression: Seizure frequency and severity can vary over time. Photosensitivity may become more pronounced.
Lifelong Condition: Jeavons syndrome is generally considered a lifelong condition, although seizure control can be achieved with appropriate treatment.
Important Considerations
Accurate Diagnosis: Due to the subtle nature of the seizures, Jeavons syndrome can be misdiagnosed. It is crucial to seek evaluation by a neurologist experienced in epilepsy.
Treatment Challenges: Achieving optimal seizure control can be challenging, and medication adjustments may be necessary.
Impact on Quality of Life: Seizures can impact school/work performance, social interactions, and overall quality of life.
Photosensitivity Management: Managing photosensitivity is essential to prevent seizures.
Comorbidities: Individuals with Jeavons syndrome may experience other conditions, such as anxiety or depression.
Ongoing Research: Research is ongoing to better understand the causes, mechanisms, and treatment of Jeavons syndrome.