autosomal recessive Segawa syndrome

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autosomal recessive Segawa syndrome (autosomal recessive DOPA-responsive dystonia, includes: autosomal recessive infantile parkinsonism)

Genetics: - autosomal recessive - associated with defects in tyrosine hydroxylase Clinical manifestations: - typically, it begins in childhood or adolescence with progressive difficulty in walking &, in some cases, spasticity - some cases present with parkinsonian symptoms in infancy (autosomal recessive infantile parkinsonism)

dystonia-5; autosomal-dominant dopa-responsive dystonia; progressive dystonia with diurnal fluctuation; autosomal dominant Segawa syndrome; dystonia-parkinsonism with diurnal fluctuation (DYT5)

General

Segawa syndrome (DOPA-responsive dystonia)

Database Correlations

OMIM 605407

References

OMIM :accession 605407

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