Neonatal ryanodine receptor type 1-related myopathies: A case report and literature review

doi:10.3969/j.issn.1004-583X.2025.06.011

Abstract

Abstract:

Objective To report the clinical characteristics and therapies of ryanodine receptor type 1-related myopathies (RYR1-RM), thus enhancing the understanding of RYR1-RM. Methods Clinical characteristics and genetic variant of a patient with RYR1-RM who onset after birth were reported, and the clinical feature of the disease was summarized by reviewing relevant literatures. The pathogenesis and treatment methods were also outlined.Results A male infant, presented soon after birth with edema, hypotonia and poor respiratory effort necessitating assisted long-time ventilation. High-throughput sequencing revealed a novel heterozygous mutation in the RYR1 gene c.14398T>C. RYR1-RM. He was then diagnosed with RYR1-RM. No mutation was found at this site in his parents. A total of 57 cases of RYR1-RM with detailed clinical data were collected. About 50% of patients presented polyhydramnios and decreased fetal movements. Hypotonia, facial involvement, extraocular muscles involvement, dyspnea, feeding problem and orthopaedic complications are the major first manifestations of RYR1-RM. Delayed motor milestones can be found in the later life.Conclusion We reported a patient carried a novel mutation in the RYR1 gene, expanding the genetic spectrum of RYR1-RM. The clinical manifestation of RYR1-RM in neonatal period is variable and involves multiple systems, making it critical to increase awareness of the disease to recognize and treat earlier. Gene detection can be helpful in providing genetic counseling and prenatal diagnosis, which may enhance the quality of management of potential patients.

Key words: congenital myopathy, RYR1 gene, hypotonia, pathogenesis, therapy

CLC Number:

R685

Wang Sihan, Li Xianghong, Li Liangliang, Xi Hongmin, Yang Ping, Ma Lili, Yin Xiangyun. Neonatal ryanodine receptor type 1-related myopathies: A case report and literature review[J]. Clinical Focus, 2025, 40(6): 541-546.

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URL: http://www.lchc.cn/EN/10.3969/j.issn.1004-583X.2025.06.011

http://www.lchc.cn/EN/Y2025/V40/I6/541

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