Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients

Abstract:

BACKGROUND: We report 4 patients with young-onset monogenetic parkinsonism, each of whom was misdiagnosed with either a psychogenic movement disorder or chronic fatigue syndrome for 10 to 23 years after the onset of their first symptoms.

RESULTS: Once the diagnosis was eventually made, they all had a rapid and excellent response to levodopa, albeit with the early appearance of interdose dyskinesias in 3.

CONCLUSIONS: We discuss possible reasons for the missed diagnosis despite the relentless progression of their motor handicap. DAT scanning supported the revised clinical diagnosis of parkinsonism.

Copyright © 2011 Movement Disorder Society.

 

Source: Ling H, Braschinsky M, Taba P, Lüüs SM, Doherty K, Hotter A, Poewe W, Lees AJ. Decades of delayed diagnosis in 4 levodopa-responsive young-onset monogenetic parkinsonism patients. Mov Disord. 2011 Jun;26(7):1337-40. doi: 10.1002/mds.23563. Epub 2011 Mar 29. https://www.ncbi.nlm.nih.gov/pubmed/21449012

 

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