PURA Syndrome and Myotonia

Mutations in PURA (coding for purine-rich element binding protein A) have recently been shown to cause the neurodevelopmental disorder previously associated with 5q31.3 microdeletion syndrome.1,2 To date, children with PURA syndrome have been described with neonatal hypotonia, hypersomnolence, hypothermia, respiratory compromise, and feeding difficulties. All reported patients have moderate-to-severe neurodevelopmental delays, with some developing epilepsy and nonepileptic hyperkinetic movements (dystonia, dyskinesia, and eye movement abnormalities) later.

Source: Pediatric Neurology - October 18, 2019 Category: Neurology Authors: Steven P. Trau, Carolyn E. Pizoli Tags: Clinical Letter Source Type: research