GM1 gangliosidosis is due to beta-galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non-Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic-rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia.

Objective The study sought to assess, for children in one large health system, (1) characteristics of active users of the patient portal (≥1 use in prior 12 months), (2) portal use by adolescents, and (3) variations in pediatric patient portal use. Materials and Methods We analyzed data from the electronic health record regarding pediatric portal use during 2017-2018 across a health system (39 871 pediatric patients). Results Altogether, 63.5% of pediatric patients were active portal users. Children (proxies) who were boys, privately insured, white, and spoke English were more likely to be active users. Common uses involved messaging with physicians, medications, allergies, letters, and laboratory results. By 15 years of age, >50% of adolescents used the portal by themselves (without a proxy). Pediatric portal use varied widely across practices. Discussion Pediatric or adolescent portal use is quite high, but large variations exist. Conclusion Use of the portal for pediatric care may reflect varying pediatric patient engagement.

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