Early-onset progressive encephalopathy with migrant continuous myoclonus

Orpha code: 1943OMIM code:

Definition

A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.

Disease data
Classification

Disease

ORPHA code
1943
OMIM code
-
ICD10 code
G40.4
ICD11 code
-

No additional description.

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