An 18-year-old man with normal birth and development and a negative family history complained of nonprogressive clumsiness and posturing of his left hand since early childhood. His left limbs were shorter than his right but showed no evidence of atrophy (eFigure 1, A-C, links.lww.com/WNL/B902). Examination revealed dystonic posturing with mirror dystonia of the left hand and subtle mirror movements in his feet (Video 1). MRI of the brain showed right hemiatrophy of the midbrain, bilateral cortical activation with unilateral finger taps on fMRI, and normal corticospinal tract decussation (Figure, A-F). Levodopa response was present, suggesting dopaminergic denervation due to a congenital hemi-midbrain insult.1 This case represents hemidystonia-hemiatrophy syndrome.2 Subtle limb shortening and mirror dystonia can aid in diagnosis.
Video 1
Video showing the main examination findings. Dystonic posturing of the left hand with mirror dystonia and contralateral overflow dystonia in the right hand. Very subtle mirror dystonia in the left toes and mirror movements in the right foot. No bradykinesia. Normal extraocular movements. No other involuntary movements.Download Supplementary Video 1 via http://dx.doi.org/10.1212/200513_Video_1
(A–C) Right-sided hemiatrophy of the midbrain with slight right hemispheric white matter volume loss. (D and E) Bilateral cortical activation on fMRI with right and left finger taps, respectively. (F) Magnetic resonance tractography shows normal decussation of corticospinal tracts.
Study Funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Appendix Authors
Footnotes
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Submitted and externally peer reviewed. The handling editor was Whitley Aamodt, MD, MPH.
Teaching slides: links.lww.com/WNL/B902.
- Received October 5, 2021.
- Accepted in final form February 28, 2022.
- © 2022 American Academy of Neurology
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