[Anesthesia in patients with dopa-responsive dystonia (Segawa syndrome) : Presentation of the pathophysiology, clinical picture and approach based on two case reports].
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DOI: 10.1007/s00101-020-00898-0
Abstract: Segawa syndrome (dopa-responsive dystonia [DRD]) is a rare neurometabolic disorder characterized by progressive dystonia, diurnal variation and tremors. It is caused by an enzymatic defect (a mutation of the GTPCH1 gene located on chromosome 14q) in the synthesis… read more here.
Keywords: responsive dystonia; dopa responsive; dystonia; case ... See more keywords
Anesthetic nuances in Segawa's syndrome: A case report and review of the literature
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DOI: 10.4103/sja.sja_809_19
Abstract: Segawa's syndrome, dopamine-responsive dystonia, is a rare genetic disorder that typically begins in childhood by around 4–6 years of age. It is characterized by abnormal gait and dystonia. A 33-year-old man presented for autologous skin… read more here.
Keywords: review literature; nuances segawa; anesthetic nuances; segawa syndrome ... See more keywords