Objective: To present the demographic, clinical and genetic data of ten patients with paroxysmal kinesigenic dyskinesia (PKD).

Background: PKD is a rare movement disorder triggered by sudden voluntary movements. Some of these patients have PRRT2 mutation and autosomal dominant inheritance. In this study, we aimed to determine the clinical, demographic and genetic data of 10 PKD patients followed in our Movement Disorders Unit.

Method: Patients with PKD, followed in our clinic between 2015 and 2020 were enrolled in this study. Age, gender, age at onset, disease duration were recorded as well as the phenomenology, duration and triggering factors of the attacks. Genetic testing for PRRT 2 was carried out in 9 patients.

Results: Ten patients (9 male / 1 female) were included in this study. The duration of disease was 7.9 (3-15) years and the age at onset was 15.6 (8-22) years. The attacks were triggered by sudden movement in 9 patients and prolonged-exercise in one. Four patients described febrile convulsions in their childhood. However, no epileptic activity was detected in the electroencephalography of the patients. Family history was positive in five patients. PRRT 2 mutation was detected in only one sporadic and one hereditary transitional patients.

Conclusion: Although PRRT2 mutation is one of the main reasons for PKD, it is not the only genetic defect responsible for this disease. We were not able to identify this mutation in most of our cases, not even with the familial ones. We would like to highlight the importance of the clinical features for the diagnosis and raise awareness of this rare disease once more.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/paroxysmal-kinesigenic-dyskinesia-case-series-from-cukurova-university-turkey/