Myoclonic astatic epilepsy: Difference between revisions
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{{Infobox medical condition | |||
| name = Myoclonic astatic epilepsy | |||
| synonyms = [[Doose syndrome]] | |||
| field = [[Neurology]] | |||
| symptoms = [[Myoclonic seizure|Myoclonic seizures]], [[Atonic seizure|atonic seizures]], [[Absence seizure|absence seizures]] | |||
| onset = Typically between ages 1 and 5 | |||
| duration = Chronic | |||
| causes = [[Genetic disorder|Genetic]] | |||
| risks = Family history of [[epilepsy]] | |||
| diagnosis = [[Electroencephalography|EEG]], [[Magnetic resonance imaging|MRI]] | |||
| differential = [[Lennox-Gastaut syndrome]], [[Juvenile myoclonic epilepsy]] | |||
| treatment = [[Antiepileptic drug|Antiepileptic drugs]], [[Ketogenic diet]] | |||
| prognosis = Variable; some achieve seizure freedom, others may have persistent seizures | |||
| frequency = Rare | |||
}} | |||
'''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 [[seizure]]s, particularly myoclonic-astatic seizures. | '''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 [[seizure]]s, particularly myoclonic-astatic seizures. | ||
==Etiology== | ==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. | 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== | ==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]]. | 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== | ||
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. | 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== | ||
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. | 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== | ==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. | 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== | ==See also== | ||
* [[Epilepsy]] | * [[Epilepsy]] | ||
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* [[Antiepileptic drugs]] | * [[Antiepileptic drugs]] | ||
* [[Ketogenic diet]] | * [[Ketogenic diet]] | ||
[[Category:Epilepsy]] | [[Category:Epilepsy]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
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{{Medicine-stub}} | {{Medicine-stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 04:08, 4 April 2025
| 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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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.
