| umls-concept:C0037769 | skos:definition | MSH: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8),JABL: Myoclonus epilepsy of infancy and early childhood, characterized by seizures involving the muscles of the neck, trunk, and limbs, and manifested by nodding of the head and flexion of the arms. The seizures are associated with brain abnormalities and frequent mental retardation.,NCI: A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the P | lld:umls |
