Myoclonic astatic epilepsy
Myoclonic astatic epilepsy | |
---|---|
Synonyms | Doose syndrome |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Myoclonic seizures, atonic seizures, absence seizures |
Complications | N/A |
Onset | Typically between ages 1 and 5 |
Duration | Chronic |
Types | N/A |
Causes | Genetic |
Risks | Family history of epilepsy |
Diagnosis | EEG, MRI |
Differential diagnosis | Lennox-Gastaut syndrome, Juvenile myoclonic epilepsy |
Prevention | N/A |
Treatment | Antiepileptic drugs, Ketogenic diet |
Medication | N/A |
Prognosis | Variable; some achieve seizure freedom, others may have persistent seizures |
Frequency | Rare |
Deaths | N/A |
Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a rare form of epilepsy that begins in childhood. It is characterized by multiple types of seizures, particularly myoclonic-astatic seizures.
Etiology
The exact cause of myoclonic astatic epilepsy is unknown. However, it is believed to be genetic in nature, as it often runs in families. Some researchers suggest that it may be related to mutations in specific genes, such as the SCN1A gene, which is also associated with other forms of epilepsy.
Symptoms
The primary symptom of myoclonic astatic epilepsy is the presence of myoclonic-astatic seizures, which involve a sudden, brief muscle jerk followed by a loss of muscle tone. This can cause the individual to fall down if they are standing. Other types of seizures may also occur, including absence seizures, tonic-clonic seizures, and atonic seizures.
Diagnosis
Diagnosis of myoclonic astatic epilepsy is based on the clinical presentation of the individual, including the types of seizures they experience and their age of onset. Electroencephalogram (EEG) testing is often used to confirm the diagnosis, as it can show characteristic patterns associated with this condition.
Treatment
Treatment for myoclonic astatic epilepsy primarily involves the use of antiepileptic drugs (AEDs) to control seizures. In some cases, a special diet known as the ketogenic diet may be recommended. This high-fat, low-carbohydrate diet has been shown to reduce seizure frequency in some individuals with epilepsy.
Prognosis
The prognosis for individuals with myoclonic astatic epilepsy varies. Some individuals may achieve good seizure control with treatment and have a normal life expectancy, while others may continue to experience seizures despite treatment. Cognitive and developmental delays may also occur.
See also
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