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Lethal neonatal spasticity-epileptic encephalopathy syndrome

Disease definition

A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.

ORPHA:435845

Classification level: Disorder
  • Synonym(s):
    • Lethal neonatal rigidity-multifocal seizure syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: G40.4
  • OMIM: 614498  618056
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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