Heterozygous YY1 mutation – A mimicker of SGCE-myoclonus-dystonia

Gabriele De Vries syndrome (GDVS) is a condition that has only recently been identified. It is characterized by intellectual disability (ID), dysmorphic features, intrauterine growth retardation (IUGR), congenital anomalies and feeding problems. Seven of 28 currently identified cases had movement disorder. Our patient primarily had abnormal movements without intellectual disability, which is the core feature of this disease. Hence this case highlights the evolving phenotype of this relatively new disorder.

Source: Parkinsonism and Related Disorders - September 5, 2023 Category: Neurology Authors: Tanushree Chawla, Natasha K. Kumar, Vinay Goyal Source Type: research