Segawa syndrome autosomal recessive

Segawa syndrome autosomal recessive

A form of DOPA-responsive dystonia (sustained involuntary muscle contractions leading to abnormal postures) (OMIM:605407) presenting in infancy or early childhood, some of whom have parkinsonian symptoms; the condition responds well to L-DOPA.
Molecular pathology
Defects in TH, which encodes tyrosine hydroxylase, cause Segawa syndrome autosomal recessive.