Familial paroxysmal non-kinesigenic dyskinesia, which is a major form of paroxysmal dyskinesias, is characterized by intermittent attacks that include one side, subsequently spreading to the other side, involving the limbs and face, and is triggered by caffeine, alcohol, emotional stress, fatigue, and sleep deprivation, but not by sudden movement. A 26-year-old man had experienced dystonic movements and a choreiform right arm spreading to his arms, legs, and face since the age of one year. Oral dyskinesias and, rarely, dysarthria were also observed. Attacks lasting approximately five minutes occurred several times per day. Over three generations, his family members inherited a c.26C > T (p. Ala9Val) missense mutation in exon 1 of
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Hara et al. (2024) studied this question.
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