Problems linked to SYT1 mutation include floppiness at birth (hypotonia), eye problems (squint, nystagmus, visual impairment) and developmental delay (late sitting and walking, communication impairment). Some individuals have trouble controlling their movements (dystonia, dyskinesia or chorea). Common habits include chewing on fingers, or tapping the chest or head. Sleep problems and feeding difficulties are often a major issue. A description frequently used by parents is “unpredictable”, switching from calm to very active without any obvious trigger.
SYT1