Objective: To report clinical findings in two Indian cases: 1. RDP and 2. AHC with paroxysmal dystonia. These two rare conditions are allelic disorders caused by ATP1A3 gene mutations.

Background: RDP (DYT12) is a rare genetic movement disorder with <200 cases described worldwide, and is unreported from India. Paroxysmal dystonia as part of the spectrum of the attacks in AHC, a rare infancy-onset paroxysmal disorder, is extremely rare and is not reported from India. 

Methods: Case Report

Results: A 40 year-old man presented with a dysphagia and voice hoarseness that was rapidly progressive, needing PEG placement at 2 months. Cervical dystonia- retrocollis, facial  and hand dystonia were present. Botulinum toxin provided temporary relief. Progression was relentless with tracheostomy needed at 10 weeks and severe generalised dystonia at 3 months, before the disease stabilised for 2 years. Family history and history and workup for other causes of dystonia was negative. Clinical criteria that predict gene-positivity by Brashear (Brain 2007) including face-arm-leg gradient of dystonia, predominant bulbar involvement, time to maximum impairment < 8 weeks, and lack of tremor were met. No response to dopaminergic or other treatment was seen. Genetic testing was sent to a genetics research laboratory (UK) and results are awaited.

A 14 year-old girl presented with prolonged (upto hours) attacks of paroxysmal generalised or upper limb dystonia for 2 years. In infancy, she experienced typical episodic hemiplegia in several attacks that lasted minutes to hours, and would alternate from side. These attacks continued till age 12, after which the nature of attacks became more dystonic. She had focal seizures in some attacks and was on antiepileptics. Developmental and cognitive delay was present. Family history was negative. Workup for alternative causes of stroke and epilepsy including video EEG of dystonic attacks was negative. No response to flunarizine used for attack prophylaxis was noted. Genetic testing for ATP1A3 mutations was negative. Repeat testing was sent to a research laboratory and results are awaited.

Conclusions: The presence of an Indian case of RDP and paroxysmal dystonia in a case of Indian AHC is documented. Further genetic delineation of these cases will lead to insight into ATP1A3-related in India. 

References: 1. Brashear A, Dobyns WB, de Carvalho Aguiar P et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.Brain. 2007 Mar;130(Pt 3):828-35. 

2. Rosewich H, Thiele H, Ohlenbusch A et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification studyAlternating hemiplegia of childhood. Lancet Neurol. 2012 Sep;11(9):764-73.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/two-sides-of-a-rare-coin-first-report-of-rapid-onset-dystonia-parkinsonism-rdp-and-alternating-hemiplegia-of-childhood-ahc-with-paroxysmal-dystonia-from-india/