Segawa syndrome autosomal recessive

(redirected from autosomal recessive infantile parkinsonism)

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.
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