Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.

ABSTRACT:

Background

Neuromuscular disorders (NMDs), rare diseases affecting the peripheral nervous system, often cause progressive weakness and systemic complications. Despite advances in genetic diagnostics, data from Southeast Asia remain limited. Ancestral variation may influence mutation spectra, revealing novel alleles and phenotypic diversity.

Methods

We evaluated the diagnostic yield and clinical impact of targeted gene panel testing and exome sequencing in pediatric-onset NMDs at Siriraj Hospital, Thailand (2020‒2024). Patients with suspected genetic NMDs and negative single-gene tests underwent gene panel testing or exome sequencing. Genetic findings were classified as positive, probable, possible, or negative.

Results

Among 135 patients, the overall diagnostic yield

SUBMITTER: Kulsirichawaroj P 

PROVIDER: S-EPMC12811135 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature