Early myoclonic encephalopathy: Difference between revisions
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{{Infobox medical condition | |||
| name = Early myoclonic encephalopathy | |||
| synonyms = EME | |||
| field = [[Neurology]] | |||
| symptoms = [[Myoclonus]], [[seizures]], [[developmental delay]] | |||
| onset = [[Neonatal]] period | |||
| duration = Chronic | |||
| causes = [[Genetic disorder]], [[metabolic disorder]] | |||
| risks = Family history of [[epilepsy]] | |||
| diagnosis = [[Electroencephalogram|EEG]], [[genetic testing]] | |||
| differential = [[Ohtahara syndrome]], [[infantile spasms]] | |||
| treatment = [[Anticonvulsant]] medications, [[ketogenic diet]] | |||
| prognosis = Poor | |||
| frequency = Rare | |||
}} | |||
Early Myoclonic Encephalopathy | Early Myoclonic Encephalopathy | ||
Early Myoclonic Encephalopathy (EME) is a rare and severe form of [[epileptic encephalopathy]] that presents in the neonatal period. It is characterized by the onset of myoclonic seizures, which are sudden, involuntary muscle jerks, and is often associated with a poor prognosis due to its impact on neurological development. | Early Myoclonic Encephalopathy (EME) is a rare and severe form of [[epileptic encephalopathy]] that presents in the neonatal period. It is characterized by the onset of myoclonic seizures, which are sudden, involuntary muscle jerks, and is often associated with a poor prognosis due to its impact on neurological development. | ||
== Clinical Presentation == | == Clinical Presentation == | ||
EME typically manifests within the first few weeks of life. The hallmark of the condition is the presence of myoclonic seizures, but other seizure types such as [[tonic seizures]] and [[partial seizures]] may also occur. Infants with EME often exhibit: | EME typically manifests within the first few weeks of life. The hallmark of the condition is the presence of myoclonic seizures, but other seizure types such as [[tonic seizures]] and [[partial seizures]] may also occur. Infants with EME often exhibit: | ||
* Frequent myoclonic jerks | * Frequent myoclonic jerks | ||
* Developmental delay | * Developmental delay | ||
* Hypotonia (reduced muscle tone) | * Hypotonia (reduced muscle tone) | ||
* Poor feeding | * Poor feeding | ||
== Etiology == | == Etiology == | ||
The etiology of EME is heterogeneous, with both genetic and metabolic causes identified. Some of the known causes include: | The etiology of EME is heterogeneous, with both genetic and metabolic causes identified. Some of the known causes include: | ||
* [[Metabolic disorders]] such as non-ketotic hyperglycinemia | * [[Metabolic disorders]] such as non-ketotic hyperglycinemia | ||
* Genetic mutations, including those in the [[SLC25A22]] and [[SCN1A]] genes | * Genetic mutations, including those in the [[SLC25A22]] and [[SCN1A]] genes | ||
* Structural brain abnormalities | * Structural brain abnormalities | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of EME involves a combination of clinical evaluation, electroencephalography (EEG), and genetic/metabolic testing. The EEG in EME often shows a characteristic pattern known as "burst suppression," where periods of high-voltage activity alternate with periods of electrical silence. | Diagnosis of EME involves a combination of clinical evaluation, electroencephalography (EEG), and genetic/metabolic testing. The EEG in EME often shows a characteristic pattern known as "burst suppression," where periods of high-voltage activity alternate with periods of electrical silence. | ||
== Treatment == | == Treatment == | ||
Treatment of EME is challenging and primarily supportive. Antiepileptic drugs (AEDs) are used to manage seizures, but the response is often poor. Commonly used AEDs include: | Treatment of EME is challenging and primarily supportive. Antiepileptic drugs (AEDs) are used to manage seizures, but the response is often poor. Commonly used AEDs include: | ||
* [[Phenobarbital]] | * [[Phenobarbital]] | ||
* [[Valproic acid]] | * [[Valproic acid]] | ||
* [[Benzodiazepines]] | * [[Benzodiazepines]] | ||
In some cases, dietary therapies such as the [[ketogenic diet]] may be considered. | In some cases, dietary therapies such as the [[ketogenic diet]] may be considered. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for infants with EME is generally poor. Many children experience severe developmental delays and neurological impairments. The condition is often resistant to treatment, and mortality rates are high in the first few years of life. | The prognosis for infants with EME is generally poor. Many children experience severe developmental delays and neurological impairments. The condition is often resistant to treatment, and mortality rates are high in the first few years of life. | ||
== Also see == | == Also see == | ||
* [[Epileptic encephalopathy]] | * [[Epileptic encephalopathy]] | ||
| Line 38: | Line 43: | ||
* [[Neonatal seizures]] | * [[Neonatal seizures]] | ||
* [[Metabolic disorders]] | * [[Metabolic disorders]] | ||
{{Epilepsy}} | {{Epilepsy}} | ||
{{Neurology}} | {{Neurology}} | ||
[[Category:Epilepsy]] | [[Category:Epilepsy]] | ||
[[Category:Neurology]] | [[Category:Neurology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 05:23, 4 April 2025
| Early myoclonic encephalopathy | |
|---|---|
| Synonyms | EME |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Myoclonus, seizures, developmental delay |
| Complications | N/A |
| Onset | Neonatal period |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic disorder, metabolic disorder |
| Risks | Family history of epilepsy |
| Diagnosis | EEG, genetic testing |
| Differential diagnosis | Ohtahara syndrome, infantile spasms |
| Prevention | N/A |
| Treatment | Anticonvulsant medications, ketogenic diet |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | N/A |
Early Myoclonic Encephalopathy
Early Myoclonic Encephalopathy (EME) is a rare and severe form of epileptic encephalopathy that presents in the neonatal period. It is characterized by the onset of myoclonic seizures, which are sudden, involuntary muscle jerks, and is often associated with a poor prognosis due to its impact on neurological development.
Clinical Presentation
EME typically manifests within the first few weeks of life. The hallmark of the condition is the presence of myoclonic seizures, but other seizure types such as tonic seizures and partial seizures may also occur. Infants with EME often exhibit:
- Frequent myoclonic jerks
- Developmental delay
- Hypotonia (reduced muscle tone)
- Poor feeding
Etiology
The etiology of EME is heterogeneous, with both genetic and metabolic causes identified. Some of the known causes include:
- Metabolic disorders such as non-ketotic hyperglycinemia
- Genetic mutations, including those in the SLC25A22 and SCN1A genes
- Structural brain abnormalities
Diagnosis
Diagnosis of EME involves a combination of clinical evaluation, electroencephalography (EEG), and genetic/metabolic testing. The EEG in EME often shows a characteristic pattern known as "burst suppression," where periods of high-voltage activity alternate with periods of electrical silence.
Treatment
Treatment of EME is challenging and primarily supportive. Antiepileptic drugs (AEDs) are used to manage seizures, but the response is often poor. Commonly used AEDs include:
In some cases, dietary therapies such as the ketogenic diet may be considered.
Prognosis
The prognosis for infants with EME is generally poor. Many children experience severe developmental delays and neurological impairments. The condition is often resistant to treatment, and mortality rates are high in the first few years of life.
Also see
| Seizures and epilepsy | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
|
WikiMD neurology
External links
- Comprehensive information from the National Institute of health.
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