Paroxysmal Kinesigenic Dystonia in a Lesch‐Nyhan Disease Variant

Lesch-Nyhan disease (LND) variants are caused by partial deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Patients with LND variants have hyperuricemia and varying degrees of motor, cognitive, and behavioral abnormalities that are usually milder than those observed in classical LND.1, 2 The absence of self-injurious behavior is considered an additional diagnostic criterion.1, 2 Dystonia is the most common motor...