Early myoclonic encephalopathy: Difference between revisions
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===Family History=== | ===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. | |||
=== Physical Examination === | === Physical Examination === | ||
Revision as of 16:11, 9 August 2012
| 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
Causes
Cause is uncertain. few proposed causes are
- Nonketotic hyperglycinemia
- Pyridoxine or pyridoxal-phosphate deficiency together with congenital deficiency of the mitochondrial glutamate transporter are known to produce a similar clinical picture.
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.