infantile parkinsonism-dystonia 2

A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3

A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3.

Signs and symptoms

• Poor head control
• Mild intellectual disability
• Dystonia
• Shuffling gait
• Hypotonia
• Sleep disturbance
• Ataxia
• Elevated urinary 5-hydroxyindoleacetic acid level
• Elevated urinary homovanillic acid
• Hypomimic face

Also known as: Brain dopamine-serotonin vesicular transport disease; PKDYS2