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Classification of dopa-responsive dystonia — a patient's perspective

Nature Reviews Neurology volume 12, page 427 (2016)Cite this article

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In a recent Review article (Dopa-responsive dystonia — clinical and genetic heterogeneity. Nat. Rev. Neurol. 11, 414–424; 2015)1, Wijemanne and Jankovic proposed that the differential diagnosis of dopa-responsive dystonia (DRD) can be narrowed by defining three clinical presentations: classic DRD, DRD with parkinsonism, and early-onset atypical DRD. As a non-medical academic with genetically confirmed autosomal dominant DRD that was misdiagnosed for nearly 10 years, I support the authors' methodical approach to differential diagnosis. However, owing to my own presentation of DRD, I propose a fourth clinical presentation: atypical late-onset DRD with Parkinson disease (PD).

My own atypical phenotype — adult-onset and rapidly generalizing DRD with PD — has not, to my knowledge, been described in the literature. My illness had a similar age of onset (41 years) and similar characteristics to the progressive neurological disease that my paternal grandmother died from at 53 years of age. My father had late-onset parkinsonism, and an aunt has late-onset vocal and unilateral hand tremors. Prior to successful bilateral deep brain stimulation (DBS), I had motor fluctuations and crippling biphasic levodopa-induced dyskinesia.

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  1. Lucy Mottet is at the University of Western Australia, 35 Stirling Highway, Crawley WA 6009, Australia.,

    Lucy Mottet

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Correspondence to Lucy Mottet.

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Mottet, L. Classification of dopa-responsive dystonia — a patient's perspective. Nat Rev Neurol 12, 427 (2016). https://doi.org/10.1038/nrneurol.2016.85

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