[SMC] PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications
Posté : 09 oct. 2022 12:00
Neuromuscul Disord. 2022 Sep 22:S0960-8966(22)00676-9. doi: 10.1016/j.nmd.2022.09.007. Online ahead of print.
ABSTRACT
PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option.
PMID:36210261 | DOI:10.1016/j.nmd.2022.09.007
Source: https://pubmed.ncbi.nlm.nih.gov/3621026 ... 8&v=2.17.8