Myoclonus-dystonia syndrome is a childhood-onset movement disorder related to mutations in the SGCE gene. 1 The gene encodes εsarcoglycan, a transmembrane protein with a brain-specific isoform. This genetic defect has autosomal dominant transmission with reduced penetrance because of maternal imprinting. 2 The myoclonus phenotype of SGCE-myoclonusdystonia has been extensively assessed in previous studies, including our own paediatric cohort. [3][4][5] In these studies, myoclonus has been reported to be more severe than dystonia. However, the dystonic phenotype has been evaluated mostly with the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), a scale designed for primary generalized dystonia. Because dystonia in patients with SGCEmyoclonus-dystonia is predominantly task specific and shows a segmental distribution, there could have been a
Porphyria is a rare disorder of heme metabolism and clinical manifestations are determined by the accumulation of porphyrin precursors. c The best management is through prevention, mainly by avoidance of precipitating factors, such as alcohol intake, cytochrome P450-inducing agents, hormone treatments, and starvation. c The mainstay of treatment is IV hematin but IV glucose should also be considered in the context of an acute attack.
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