Dystonia with or without parkinsonism of infantile or childhood onset

Dystonia and parkinsonism of adolescent and young adult onset

Dystonia and parkinsonism in older adults



     Differential Diagnosis

     Investigations to consider

     Dopa-responsive dystonia

     GTP1 cyclohyrolase gene, tyrosine hydroxylase gene and other
     genes; CSF analysis, DAT SPECT, Dopa-challenge


     Neurodegeneration with brain iron accumulation type 1 disease (NBIA1), and familial basal ganglia calcifications


     Young-onset Parkinsonism (e.g. Parkin): dystonia may be present intermittently, as exercise-
     induced paroxysmal foot dystonia, and this may even be a presenting feature

     Genetic testing (e.g. Parkin gene, etc.)
     Wilson s disease
     Copper/caeruloplasmin, slit lamp examination, (ATP7B gene)
     Kufor-Rakeb disease
     ATP13A2 gene
     PLA2G6-associated neurodegeneration
     PLA2G6 gene
     Atypical Parkinsonian disorders: PSP, CBD, MSA
     Levodopa-induced dyskinesia in PD