Autoszomális recesszív
Caused by changes in both copies of GEMIN5, part of the SMN complex that assembles small RNA-protein particles needed for RNA processing.
Tünetek és jelek
Developmental delay with low muscle tone and poor coordination (ataxia) are typical, with cerebellar atrophy on brain MRI. Motor dysfunction is a core feature. Less often there are seizures or intellectual disability of variable degree.
Mit változtat a diagnózis
Physiotherapy, occupational and speech therapy, and developmental support, with neurological review and treatment of seizures. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
GEMIN5 disorder; NEDCAM
