Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey

Abstract

Objective: This study aimed to investigate the clinical characteristics of pediatric-onset dystonia in Japan, addressing the diagnostic challenges arising from symptom variations and etiological diversity.

Methods: From 2020 to 2022, questionnaires were distributed to 1218 board certified child neurologists (BCCNs) by Japanese Society of Child Neurology. In the primary survey, participants were asked to report the number of patients with pediatric-onset dystonia under their care. Subsequently, the follow-up secondary survey sought additional information on the clinical characteristics of these patients.

Results: The primary survey obtained 550 responses (response rate: 45 %) from BCCNs for their 736 patients with dystonia. The predominant etiologies included inherited cases (with DYT10 <PxMD-PRRT2> being the most prevalent, followed by DYT5 <DYT/PARK-GCH1> and ATP1A3-related neurologic disorders), acquired cases (with perinatal abnormalities being the most common), and idiopathic cases. The secondary survey provided clinical insights into 308 cases from 82 BCCNs. Infancy-onset dystonia presented as persistent and generalized with diverse symptoms, primarily linked to ATP1A3-related neurologic disorders and other genetic disorders resembling acquired dystonia. Conversely, childhood/adolescent-onset dystonia showed paroxysmal, fluctuating courses, predominantly affecting limbs. The most common etiologies were DYT5 <DYT/PARK-GCH1> and DYT10 <PxMD-PRRT2>, leading to therapeutic diagnoses.

Conclusion: Pediatric-onset dystonia in Japan was treated by 28 % of BCCNs. The majority of cases were inherited, with high prevalence rates of DYT5 <DYT/PARK-GCH1> and DYT10 <PxMD-PRRT2>. Infancy-onset dystonia exhibits diverse etiologies and symptoms, emphasizing the utility of various examinations, including genetic testing. These findings significantly contribute to our understanding of pediatric-onset dystonia in Japan, although this study has the limitation of questionnaire survey.

Keywords: ATP1A3-related neurologic disorders; Acquired dystonia; DYT/PARK-GCH1; DYT10; DYT5; Inherited dystonia; Pediatric-onset dystonia; PxMD-PRRT2.