Clinical Characteristics

The clinical features associated with mutations in the RUSC2 gene are:

  • Floppy as newborn and small infant
  • Convulsions in early infancy especially jerks and Salaam attacks
  • Delayed walking
  • Delayed speech (lack of verbal communication)
  • Behavioural problems
  • Unsteady gait
  • Dependent in all activities of daily livings
  • Small head
  • Scoliosis
  • Abnormal MRI-Brain with corpus colossal changes (the fibres connecting the two hemispheres)