Early myoclonic encephalopathy

Early myoclonic encephalopathy
ICD-10	G 40.3
MeSH	D004831

For patient information, click Insert page name here Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ;

Synonyms and keywords: neonatal myoclonic encephalopathy

Overview

Early myoclonic encephalopathy, is a seizure disorder that begins in the neonatal period. It has features like partial or fragmentary erratic myoclonic seizures,massive myoclonus, partial motor seizures (jerking movements of one side)and tonic seizures.

Classification

According to International Classification of Epilepsies and Epileptic Syndromes(ILAE), early myoclonic encephalopathy is categorized as age related, generalized symptomatic epilepsy of non specific etiology.

Pathophysiology

Genetics

• In most cases the disease appears to be inherited as an autosomal recessive trait.

Associated Conditions

• Non-ketotic hyperglycemia
• D-glycemic acidemia
• Methylmalonic acidemia
• Propionic acidemia
• Hyperammonemia due to carbamyl phosphate synthetase deficiency

Causes

Cause is uncertain.

Differentiating type page name here from other Diseases

Early myoclonic encephalopathy has to be differentiated from few other epilepsy syndromes due to similar presentations.

• Ohtahara syndrome
• West syndrome
• Lennox-Gastaut syndrome

Differentiating features are:

Features/Disease	Early myoclonic encephalopathy	West syndrome	Lennox-Gastaut syndrome
Age at presentation	Early infancy	Infancy	Early childhood
Diverse seizures
Tonic spasms
Response to ACTH
Interictal EEG

Epidemiology and Demographics

Early myoclonic encephalopathy(EME) is a rare disease with only around 30 cases described so far.

Diagnosis

Family History

• There is a high risk of familial recurrence since in most cases the disease appears to be inherited as an autosomal recessive trait.

References

Template:WikiDoc Sources