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.

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:

• Phenobarbital
• Valproic acid
• Benzodiazepines

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

• Epileptic encephalopathy
• Myoclonic epilepsy
• Neonatal seizures
• Metabolic disorders

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External links

• Comprehensive information from the National Institute of health.
  

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