To study the clinical and genetic characteristics of 2 Chinese children with spinal muscular atrophy (SMA) caused by mutations in the ASAH1 gene and review relevant literature. Methods: The clinical and genetic data of 2 patients diagnosed at our hospital with SMA caused by the ASAH1 gene mutation was analyzed．In addition, 14 reported cases of SMA associated with the ASAH1 gene mutation were summarized and analyzed. Results：The 2 patients are siblings. Patient 1 was a girl aged 13 years and 9 months with generally normal early developmental milestones. At 8 years old, she started to show slowly progressive difficulty in walking, stair-climbing, running and jumping. Patient 2 was a boy aged 9 years and 4 months; he was able to walk independently at 1 year 2 months. Around age 6, he began showing slowly progressive limb weakness and abnormal running posture. Whole exome sequencing revealed that both patients harbored compound heterozygous mutations in the ASAH1 gene; c.1098+1G>T in intron 13 is a splicing mutation, and this site had been internationally reported as a pathogenic mutation; c.216+11A>G in intron 3 had never been internationally reported before. Since the onset of disease, the 2 patients experienced a progressive regression in motor function. The patients suffered no seizures during the course of the disease, and their intelligence remained basically normal. As of September 2019, a total of 14 children with ASAH1 mutation-related SMA had been reported at home and abroad; among them, 2 patients had only SMA symptoms and 12 both SMA and progressive myoclonic epilepsy (PME). In these 14 patients, disease generally started with muscular weakness around age 5; seizures occur around 7-12 years old; and tremors, recurrent pneumonia, dysphagia, and other symptoms often appeared through the course of the disease. A total of 9 mutations of the ASAH1 gene were found, with the most prevalent being c.125C>T. The mode of inheritance was autosomal recessive in all patients. In all cases, early developmental milestones were normal, and cognitive function showed no significant impairment throughout the disease course. At the time of this report, 4 patients have died in adolescence. Conclusion：ASAH1 gene mutation-associated SMA is a rare, progressive autosomal recessive hereditary disease caused by the ASAH1 gene mutation. Mutations in the ASAH1 gene often produce SMA-PME phenotypes and may also cause only spinal muscular atrophy without the presence of progressive myoclonic epilepsy. This case provides 1 previously reported splicing mutation and 1 unreported intron point mutation; this is the first reported case of ASAH1 gene mutation in China that resulted in the SMA-only phenotype without the presence of PME.