Key result
ATP1A3 mutations manifest with paroxysmal asymmetric dystonic arm posturing as a characteristic diagnostic clue.
Why the study?
ATP1A3 mutations cause a wide clinical spectrum, but paroxysmal or episodic dystonia has been less recognized as a characteristic manifestation.
Case Report (n=4)
Paroxysmal asymmetric dystonic arm posturing is identified as a characteristic clinical clue for ATP1A3-related disease.
Recognizing this dystonic pattern may prompt ATP1A3 testing; extends phenotypic spectrum but leaves open diagnostic utility.
Background ATP1A3 mutations cause a wide clinical spectrum, and are one of the “commoner rare diseases”. Methods Case series of four patients with ATP1A3 mutations. Results The patients displayed characteristic episodes of dystonic arm posturing, involving a dystonic, flexed arm held in front of the body or close to the body, but with the hand raised upwards. Other attacks manifested with arm extension, either beside the body or reaching upwards. Dystonic posturing occurred paroxysmally, with no neurological signs between attacks, or combined with other signs like chorea, ataxia, and hypotonia. Conclusions While previous diagnostic criteria have not included paroxysmal or episodic dystonia, recent expert consensus has proposed to include alternating or paroxysmal dystonia as major feature calling for ATP1A3 genetic testing. Attacks of marked arm flexion posturing, either paroxysmal or as episodic exacerbation of mild pre‐existent dystonia, are a characteristic clue to ATP1A3‐related disease.
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Balint et al. (2019) conducted a case report in ATP1A3-related disease (n=4). ATP1A3 mutations was evaluated on Dystonic arm posturing. In a case series of 4 patients, ATP1A3 mutations manifested as characteristic episodes of paroxysmal asymmetric dystonic arm posturing, serving as a diagnostic clue for the disease.
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