autosomal recessive Segawa syndrome

info · Genetic

A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15.

Signs and symptoms

Decreased CSF homovanillic acid concentration
Axial hypotonia
Delayed speech and language development
Parkinsonism
Hypokinesia
Mask-like facies
Gait ataxia
Limb dystonia
Rigidity
Motor delay

Also known as: autosomal recessive DOPA-responsive dystonia