title: Dopa-responsive dystonia (Segawa syndrome).
abstract: A 12 year old boy with gradually worsening global developmental delay was diagnosed and managed as quadriplegic cerebral palsy since child-hood. Subsequent evaluation revealed marked dystonia over spasticity leading to suspicion of Segawa syndrome. Dramatic improvement in clinical condition followed after therapy with low dose L-Dopa.
authors.affiliation: Childrens Center, Hull and East Riding Community Health NHS Trust, Hull, United Kingdom. neel.kamal@humber.nhs.uk
authors.forename: Neel
authors.initials: N
authors.lastname: Kamal
authors.forename: Deepti Pagare
authors.initials: DP
authors.lastname: Bhat
authors.forename: Emma
authors.initials: E
authors.lastname: Carrick
mesh_terms: D002547:Cerebral Palsy / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D003951:Diagnostic Errors; D015259:Dopamine Agents / Q000627:therapeutic use*; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000188:drug therapy* / Q000503:physiopathology; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D011782:Quadriplegia / Q000188:drug therapy / Q000209:etiology; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D015259:Dopamine Agents; D007980:Levodopa