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. 2022 Aug 10;9(8):1136-1139.
doi: 10.1002/mdc3.13522. eCollection 2022 Nov.

Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation-A Diagnostic Challenge

Samhita Panda  1 , Saksham Jain  1 , Dhwani Dholakia  2 , Bharath Ram Uppilli  2 , Mohammed Faruq  2
Affiliations

Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation-A Diagnostic Challenge

Samhita Panda et al. Mov Disord Clin Pract. .
No abstract available

Keywords: childhood‐onset; dopa responsive dystonia; episodic; misdiagnosis; movement disorder.

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Figures

FIG. 1
FIG. 1
(A, B), Axial T2W image on MRI brain is normal; (C), mild mineralization of the globus pallidus on SWI sequence; (D), 99mTc TRODAT‐I SPECT scan showing normal dopamine transporter concentration in nigrostriatal regions.
See this image and copyright information in PMC

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