Open AccessNemaline Myopathy: A Case Report
Author(s) -
Mubaraki Adnan A.
Publication year - 2021
Publication title -
case reports in neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.207
H-Index - 15
ISSN - 1662-680X
DOI - 10.1159/000517898
Subject(s) - single case – general neurology
AbstractGeneralized 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.