Key result
Next-generation sequencing successfully identified nemaline myopathy in a 16-year-old girl who had been previously misdiagnosed with congenital myasthenia.
Why the study?
Generalized weakness in pediatric and adolescent populations has diverse neuromuscular causes, and next-generation sequencing is emerging as a high-yield replacement for invasive muscle and nerve biopsies to label previously undiagnosed muscle diseases.
Case Report (n=1)
Next-generation sequencing is a valuable, non-invasive tool for accurately diagnosing congenital muscle diseases like nemaline myopathy, especially in cases with consanguinity.
Answers are grounded in this paper and cite their sources.
NGS may avert misdiagnosis and unnecessary therapy in adolescent weakness; hypothesis-generating and should not yet change practice.
Generalized weakness in the pediatric and adolescent population is caused by many disorders that affect the neuromuscular axis. As next-generation sequencing (NGS) is becoming of high yield in replacing more invasive procedures, that is, muscle and nerve biopsy, more previously undiagnosed diseases of the muscles are now labeled with specific pathogenicity. A 16-year-old-girl diagnosed with nemaline myopathy but previously was misdiagnosed with congenital myasthenia and put-on unnecessary medications. Clinicians should be aware of congenital diseases that affect the muscles and know the importance of the NGS in reaching the correct diagnosis more so when there is a history of consanguinity.
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Adnan A. Mubaraki (2021) conducted a case report in Nemaline myopathy (n=1). Next-generation sequencing (NGS) was evaluated. Next-generation sequencing successfully identified nemaline myopathy in a 16-year-old girl who had been previously misdiagnosed with congenital myasthenia.
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