A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity severe global developmental delay and moderate to profound intellectual disability. Obligate female carriers show subtle generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.
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 April 2026
Newly diagnosed with
X-linked spasticity-intellectual disability-epilepsy syndrome?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Mickie?s Miracles
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.