Clinical Characteristics

The clinical features of this disease, per organ system, include:

Central Nervous System

  • Early developmental delay in motor milestones
  • Intellectual disability
  • Attention deficit hyperactivity syndrome
  • Visual-motor perceptual dyspraxia
  • Growth retardation and microcephaly
  • Dystonia
  • Dysarthria and severe linguistic delay
  • Muscle cogwheel rigidity
  • Brisk deep tendon reflexes
  • Upgoing plantar responses
  • Brain MRI: Thinning of the putamena and swelling of caudate heads
  • PET scan: Hypometabolism of the putamina

The disease has a consistent phenotype among all the four affected siblings with neurodevelopmental delay from infancy and early-onset of cataract. Basal ganglia symptoms with dystonia and dysarthria becoming evident in early childhood.