Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.

TitlePediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Publication TypeJournal Article
Year of Publication2022
AuthorsChristophers B, Lopez MA, Gupta VA, Vogel H, Baylies M
JournalJ Child Neurol
Date Published2022 Jun
KeywordsChild, Humans, Muscle, Skeletal, Muscular Diseases, Mutation, Myopathies, Nemaline, Quality of Life

Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. The objective of this study was to develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with NM. A systematic search of MEDLINE, Embase, CINAHL, Web of Science, and Scopus was performed using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines using the keywords pediatric, child, NM, nemaline rod, and rod myopathy. Case studies focused on pediatric NM and published in English between January 1, 2010, and December 31, 2020, in order to represent the most recent findings. Information was collected about the age of first signs, earliest presenting neuromuscular signs and symptoms, systems affected, progression, death, pathologic description, and genetic changes. Of a total of 385 records, 55 case reports or series were reviewed, covering 101 pediatric patients from 23 countries. We review varying presentations in children ranging in severity despite being caused by the same mutation, in addition to current and future clinical considerations relevant to the care of patients with NM. This review synthesizes genetic, histopathologic, and disease presentation findings from pediatric NM case reports. These data strengthen our understanding of the wide spectrum of disease seen in NM. Future studies are needed to identify the underlying molecular mechanism of pathology, to improve diagnostics, and to develop better methods to improve the quality of life for these patients.

Alternate JournalJ Child Neurol
PubMed ID36960434
PubMed Central IDPMC10032635
Grant ListR01 AR068128 / AR / NIAMS NIH HHS / United States
P30 CA008748 / CA / NCI NIH HHS / United States
T32 GM007739 / GM / NIGMS NIH HHS / United States
R35 GM141877 / GM / NIGMS NIH HHS / United States
R56 AR077017 / AR / NIAMS NIH HHS / United States

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