Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

Jiang, Chao; Wang, Jianping; Lu, Huazhong

doi:10.1155/2012/203602

Cited by 3 publications

(4 citation statements)

References 8 publications

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“…One study found that 2 patients had necrotic muscle fibers with T cells that stained positive for CD4 and negative to CD8. 48 Atrophic fibers were found in 12% of patients with no correlation to age of first symptoms or death at the time of case report. Detailed analysis of patients with NEB mutations categorized them into 3 groups by time of symptom onset, which correlated with differences on histology such as differences in the amount of sarcomeric dissociation, rod pattern, and fiber type.…”

Section: Resultsmentioning

confidence: 89%

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Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data

et al. 2022

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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.

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Section: Resultsmentioning

confidence: 89%

“…However, much remains to be discovered since there are cases where a mutated gene has not yet been identified. 26,48,52,53,58,68,69,70,71 Sequencing is not as accessible across the globe and may pose financial hardship in some cases; thus, it is unlikely to become the sole source of diagnostic information in the near future.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data

et al. 2022

View full text Add to dashboard Cite

show abstract

“…One study found that two patients had necrotic muscle fibers with T cells that stained positive for CD4 and negative to CD8. 48 Atrophic fibers were found in 12% of patients with no correlation to age of first symptoms or death at time of case report. Detailed analysis of patients with NEB mutations categorized them into three groups by time of symptom onset which correlated with differences on histology such as differences in the amount of sarcomeric dissociation, rod pattern and fiber type.…”

Section: Resultsmentioning

confidence: 91%

Pediatric Nemaline Myopathy: A systematic review using individual patient data

Christophers

Lopez

Gupta

et al. 2022

Preprint

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Context: Nemaline myopathy (NM) is a skeletal muscle disease that affects 1 in 50,000 live births. Objective: Develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with nemaline myopathy. Data Sources: 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, nemaline myopathy, nemaline rod, rod myopathy. Study Selection: 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. Data Extraction: Information was collected about the age of first signs, earliest presenting neuromuscular signs and symptoms, systems affected, progression, death, pathological description, and genetic changes. Results: 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 nemaline myopathy. Limitations: The results are limited by findings shared in the literature, which varied in their detail and sometimes lacked histological or genetic results. Trends and correlations may be altered by information available. Conclusions: This review synthesizes genetic, histopathologic, and disease presentation findings from pediatric nemaline myopathy case reports. These data strengthen our understanding of the wide spectrum of disease seen in nemaline myopathy. Future studies are needed to identify the underlying molecular mechanism of pathology, to improve diagnostics, and to develop better methods to improve quality of life for these patients.

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“…Nemaline myopathy (NM) is a genetically and clinically heterogeneous form of myopathy, which has an incidence rate of ~1/50,000 live births worldwide (1). In China, <50 cases, as determined by clinical analyses and pathohistological examinations, have been reported in the literature since the first case in 1990 (2)(3)(4)(5)(6). In a previous study, in 4,127 patients with suspected myopathy who received muscle biopsies, the occurrence of NM was only ~0.29% (28 cases) (2), thus suggesting that NM is a rare disorder in Chinese populations.…”

Section: Introductionmentioning

confidence: 99%

The de novo missense mutation N117S in skeletal muscle α-actin 1 causes a mild form of congenital nemaline myopathy

Liu

Yü

Chen

et al. 2016

Molecular Medicine Reports

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Nemaline myopathy (NM) constitutes a spectrum of primary skeletal muscle disorders, the diagnosis of which is based on muscle weakness and the visualization of nemaline bodies in muscle biopsies. Mutations in several NM causal genes have been attributed to the majority of NM cases, particularly mutations in nebulin and skeletal muscle α‑actin 1 (ACTA1), which are responsible for ~70% of cases; therefore, a genetic diagnostic strategy using targeted gene sequencing may potentially improve the diagnosis of suspected NM. The present study identified a de novo mutation in ACTA1 (c.350A>G; p.Asn117Ser) in a Chinese patient using target‑capture sequencing of a panel containing 125 known causal genes for inherited muscle diseases. Clinical analyses revealed that the case described in the present study exhibited a relatively mild phenotype with regards to muscle weakness, as compared with more severe phenotypes reported in several other patients with the same mutation, thus suggesting the existence of genetic modifiers. In conclusion, this approach may be helpful for the identification of clinically undiagnosed patients with highly heterogeneous disorders.

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Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

Cited by 3 publications

References 8 publications

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data

Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data

Pediatric Nemaline Myopathy: A systematic review using individual patient data

The de novo missense mutation N117S in skeletal muscle α-actin 1 causes a mild form of congenital nemaline myopathy

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