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Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.

ABSTRACT: Nemaline myopathy is a skeletal muscle disorder characterized by a wide range of severity and variable presentation. While most cases present in the neonatal period with symptoms, such as hypotonia, muscle weakness, and respiratory insufficiency, delayed onset in childhood or adulthood is also observed. The pathogenesis of nemaline myopathy involves at least 12 genes, and the condition can arise from de novo mutations or be inherited in a dominant or recessive manner. In this study, we present two cases of neonates admitted to a neonatal intensive care unit (NICU) exhibiting hypotonia, muscle weakness, and respiratory insufficiency. Both cases were diagnosed with congenital nemaline myopathy, with each patient displaying distinct mutations. This report highlights the clinical and genetic heterogeneity of this condition, emphasizing the importance of early recognition and genetic evaluation for accurate diagnosis and appropriate management of affected individuals.

SUBMITTER: Mohtisham F

PROVIDER: S-EPMC10503874 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.

Mohtisham Farzeen F Al Thaqafi Maram M Shawli Aiman A Sallam Adel A

Cureus 20230913 9

Nemaline myopathy is a skeletal muscle disorder characterized by a wide range of severity and variable presentation. While most cases present in the neonatal period with symptoms, such as hypotonia, muscle weakness, and respiratory insufficiency, delayed onset in childhood or adulthood is also observed. The pathogenesis of nemaline myopathy involves at least 12 genes, and the condition can arise from de novo mutations or be inherited in a dominant or recessive manner. In this study, we present t ...[more]

PMID: 37720117

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Project description:Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament. Recently, we identified mutations in the muscle alpha-skeletal-actin gene (ACTA1) in a subset of patients with NM. In the present study, we evaluated a new series of 35 patients with NM. We identified five novel missense mutations in ACTA1, which suggested that mutations in muscle alpha-skeletal actin account for the disease in approximately 15% of patients with NM. The mutations appeared de novo and represent new dominant mutations. One proband subsequently had two affected children, a result consistent with autosomal dominant transmission. The seven patients exhibited marked clinical variability, ranging from severe congenital-onset weakness, with death from respiratory failure during the 1st year of life, to a mild childhood-onset myopathy, with survival into adulthood. There was marked variation in both age at onset and clinical severity in the three affected members of one family. Common pathological features included abnormal fiber type differentiation, glycogen accumulation, myofibrillar disruption, and "whorling" of actin thin filaments. The percentage of fibers with rods did not correlate with clinical severity; however, the severe, lethal phenotype was associated with both severe, generalized disorganization of sarcomeric structure and abnormal localization of sarcomeric actin. The marked variability, in clinical phenotype, among patients with different mutations in ACTA1 suggests that both the site of the mutation and the nature of the amino acid change have differential effects on thin-filament formation and protein-protein interactions. The intrafamilial variability suggests that alpha-actin genotype is not the sole determinant of phenotype.

Dataset Information

Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.

Publications

Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.

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