PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.
Neuromuscul Disord
; 32(10): 842-844, 2022 10.
Article
em En
| MEDLINE
| ID: mdl-36210261
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.
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Base de dados:
MEDLINE
Assunto principal:
Síndromes Miastênicas Congênitas
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Epilepsia
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Deficiência Intelectual
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article