Work

[A case of neonatal congenital myasthenic syndrome caused by MUSK gene variants].

Year: 2026

Type: article

Abstract: gene, confirming the diagnosis of congenital myasthenic syndrome. After oral pyridostigmine, the peak value of electrical activity of the diaphragm increased, but it remained low for most of the time, and the infant remained ventilator-dependent. The family elected to discontinue active treatment, and the infant died. This case is characterized by severe respiratory failure, muscle weakness, and specific causative gene variants, with limited treatment response and poor prognosis. Congenital myasthenic syndrome should be considered in neonates with early-onset, persistent, severe respiratory failure accompanied by neuromuscular involvement. Early genetic testing facilitates a definitive diagnosis, but current therapeutic options are limited, underscoring the need for new interventions.

Source: PubMed Central

DOI: 10.7499/j.issn.1008-8830.2508135

Authors: Xiao-Ling Zhang, Yi Sun

Institutions: Guangzhou Women and Children Medical Center, Guangzhou Medical University

Language: Chinese

Topic: Myasthenia Gravis and Thymoma

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7223241651