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Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data
Briana Christophers1, Michael A Lopez2, Vandana A Gupta3
1Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD Program, New York, NY, USA.
Journal of Child Neurology
|March 24, 2023
Summary
This review synthesizes recent pediatric nemaline myopathy (NM) case reports, highlighting the wide spectrum of disease presentation and severity. Further research is needed to improve diagnostics and patient quality of life.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Nemaline myopathy (NM) is a rare skeletal muscle disorder affecting approximately 1 in 50,000 live births.
- Understanding the diverse clinical presentations and genetic underpinnings of pediatric NM is crucial for effective patient management.
Approach:
- A systematic literature review following PRISMA guidelines was conducted.
- Searched MEDLINE, Embase, CINAHL, Web of Science, and Scopus for pediatric NM case reports published between 2010 and 2020.
- Synthesized data on patient demographics, clinical signs, symptoms, disease progression, pathology, and genetics from 55 case reports involving 101 pediatric patients.
Key Points:
- Pediatric NM exhibits a broad spectrum of clinical severity, even among patients with identical genetic mutations.
- Collected data included age of onset, initial neuromuscular signs, affected systems, disease progression, and pathological findings.
- Genetic variations and histopathologic descriptions were analyzed to correlate with clinical phenotypes.
Conclusions:
- This synthesis strengthens the understanding of the wide variability in pediatric nemaline myopathy presentations.
- Future research should focus on elucidating molecular mechanisms, enhancing diagnostic tools, and developing better supportive care strategies to improve quality of life for affected children.
