neurodevelopmental disorder with parkinsonism or other movement abnormalities

An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combinati

An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21.

Signs and symptoms

• Encephalopathy
• Elevated circulating creatine kinase activity
• Bradykinesia
• Rigidity
• Hypotonia
• Lower limb spasticity
• Ultra-low vision with retained light perception
• Undetectable visual evoked potentials
• Spastic tetraplegia
• Interictal EEG abnormality

Also known as: NEDPAM