Abstract: ObjectiveTo study the spectrum of neonatal neuromuscular diseases (NMDs), to explore the clinical and laboratory characteristics, and to provide a basis for the diagnosis of NMDs. MethodsThe clinical data of children with confirmed NMDs admitted to the Department of Neonatology, Children's Hospital of Fudan University from January 1, 2016 to December 31, 2018 were retrospectively analyzed, including clinical presentations, routine laboratory examinations, muscle biopsy (MB), next-generation sequencing (NGS) and prognostic outcome, etc. ResultsA total of 25 cases were enrolled in the study. There were 14 males and 11 females. Nine cases were premature and 16 cases were full term infants. The gestational age was 27+4 to 41+5 weeks (median: 38+3 weeks), and the birth weight was 980 to 4,050 g (median: 3,000 g). Fifteen cases (60%) died, 8 cases (32%) survived, and 2 cases (8%) were lost to follow-up. The postmenstrual age of MB was 32+1 to 51+4 weeks (median: 41+3 weeks). The most common clinical presentations in the neonatal period were hypotonia 24 cases (96%), requiring nasogastric feeding (20/22 cases, 90.9%) and respiratory support 22 cases (88%) after birth. Most of them were neuromuscular-related diseases (64%). NGS was positive in 23 cases (92%) with 56% of neuromuscular disease-related genes. MB was positive in 19 cases (76%) with 52.6% of congenital myopathy. Among 15 cases of death, 86.7% was positive for NGS with 53.3% of neuromuscular disease related genes and 73.3% was positive for MB cases with 40% of congenital myopathy. ConclusionThe onset of NMDs in neonatal period was not obvious and the clinical manifestations were quite different and lack of specificity. Detailed medical history, physical examination, MB pathology combined with NGS could improve the diagnosis of NMDs, and provide a basis for the early diagnosis and treatment of NMDs.