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.
Historical Perspective
Classification
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
Epidemiology and Demographics
Early myoclonic encephalopathy(EME) is a rare disease with only around 30 cases described so far.
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Symptoms
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.