UNC13A-Related Neurodevelopmental Disorder
Autoszomális domináns
Caused by changes in one copy of UNC13A, a gene essential for releasing chemical messengers at nerve connections. Most reported variants arose de novo, and some alter the protein's activity rather than switching it off.
Tünetek és jelek
Developmental delay and intellectual disability of varying severity. Movement problems such as tremor, dyskinesia or unsteadiness are common, and seizures are common and often hard to control. Less often there is low muscle tone.
Mit változtat a diagnózis
Developmental, speech and educational support, with neurology care for movements and seizures. Genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
Más néven
UNC13A-related neurodevelopmental disorder with seizures and movement disorder
