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

Dopa responsive dystonia (DRD) is a heterogeneous disorder with phenotypic and genotypic variability in rate controlling enzymes of dopamine, serotonin and norepinephrine pathway. 1,2 Although hallmarked by early onset dystonia, diurnal variability and robust levodopa ( L -dopa) responsiveness, recog-nition of subtle differences between subtypes helps optimize treatment. 1,3,4 Here, a rare presentation of a rare DRD variant is reported.

[1]  A. Espay,et al.  Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics , 2021, Neurology. Clinical practice.

[2]  P. Singhi,et al.  An Indian family with tyrosine hydroxylase deficiency , 2017, Indian Pediatrics.

[3]  J. Friedman.  What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa. , 2016, Pediatric Neurology.

[4]  S. Heales,et al.  Monoamine neurotransmitter disorders—clinical advances and future perspectives , 2015, Nature Reviews Neurology.

[5]  J. Jankovic,et al.  Dopa-responsive dystonia—clinical and genetic heterogeneity , 2015, Nature Reviews Neurology.

[6]  B. Jeon,et al.  Clinical Spectrum of Dopa-Responsive Dystonia and Related Disorders , 2014, Current Neurology and Neuroscience Reports.

[7]  N. Brüggemann,et al.  Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. , 2012, Archives of neurology.

[8]  C. Ki,et al.  Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy , 2011, Journal of Korean medical science.

[9]  D. Zafeiriou,et al.  Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. , 2010, Brain : a journal of neurology.

[10]  K. Rostásy,et al.  Levodopa‐responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections , 2005, Movement disorders : official journal of the Movement Disorder Society.

[11]  M. Jan.  Misdiagnoses in children with dopa-responsive dystonia. , 2004, Pediatric neurology.

[12]  N. Nishiyama,et al.  Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease) , 2003, Annals of neurology.

[13]  M. Naumann,et al.  Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa‐nonresponsive dystonia , 2003, Annals of neurology.

[14]  M. Brownstein,et al.  Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene. , 2001, Archives of neurology.