UNC13A-Related Neurodevelopmental Disorder
Autozomálně dominantní
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.
Příznaky a projevy
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.
Co se diagnózou změní
Developmental, speech and educational support, with neurology care for movements and seizures. Genetic counselling and parental testing help clarify recurrence risk.
Analyzované geny
Známé také jako
UNC13A-related neurodevelopmental disorder with seizures and movement disorder
