Autozomálně recesivní
Caused by changes in both copies of GEMIN5, part of the SMN complex that assembles small RNA-protein particles needed for RNA processing.
Příznaky a projevy
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.
Co se diagnózou změní
Physiotherapy, occupational and speech therapy, and developmental support, with neurological review and treatment of seizures. Carrier testing of relatives and genetic counselling are available.
Analyzované geny
Známé také jako
GEMIN5 disorder; NEDCAM
