Search for a rare disease
Other search option(s)
Myoclonic epilepsy of infancy
Disease definition
A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.
ORPHA:86909
Classification level: Disorder- Synonym(s):
- Benign myoclonic epilepsy of infancy
- Benign myoclonus epilepsy of infancy
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: G40.3
- ICD-11: 8A61.1Y
- OMIM: -
- UMLS: C0751120
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.