classic dopamine transporter deficiency syndrome

A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the S

A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.

Signs and symptoms

• Hypertonia
• Oromandibular dystonia
• Increased CSF homovanillic acid concentration
• Hypomimic face
• Global developmental delay
• Delayed gross motor development
• Bradykinesia
• Rigidity
• Axial hypotonia
• Ocular flutter

Also known as: PKDYS1; classic DTDS; infantile parkinsonism-dystonia 1