Lethal neonatal spasticity-epileptic encephalopathy syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Synonyms: Lethal neonatal rigidity-multifocal seizure syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

Newly diagnosed with
Lethal neonatal spasticity-epileptic encephalopathy syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.