ABSTRACT
CASE PRESENTATION The index case in this family was first evaluated at 6 months of age for developmental motor delay and truncal hypotonia. By age 1 year she had generalized dystonia with episodes of dystonic limb spasms accompanied by upward ocular deviations (oculogyric crises) lasting minutes to hours. By age 3 years, the child had achieved no significant motor milestones. Examination at that time showed poor head control, inability to roll over or sit independently, and no speech production. Generalized dystonia, symmetric hyperreflexia, and bilateral extensor responses were noted (see video, Case 23 ).
