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.