biostudies-literatureUnknown9Yang HInnovative Research Group Project of the National Natural Science Foundation of China<i>ISPD</i> gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by <i>ISPD</i> gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our results confirm that the phenotype of limb-girdle muscular dystrophies can be easily misdiagnosed as Duchenne muscular dystrophy and that exon deletions of <i>ISPD</i> gene are relatively common. Moreover, low-dose prednisone therapy can improve patients' exercise ability and prolong survival and may be a promising new avenue for <i>ISPD</i> therapy.Frontiers in pediatrics710553https://www.ebi.ac.uk/biostudies/studies/S-EPMC8416436biostudies-literatureCase Report: <i>ISPD</i> Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.PMC8416436Yang HGan SWu LLiao HCai FXiao TfalseCase Report: <i>ISPD</i> Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.<i>ISPD</i> gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by <i>ISPD</i> gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our results confirm that the phenotype of limb-girdle muscular dystrophies can be easily misdiagnosed as Duchenne muscular dystrophy and that exon deletions of <i>ISPD</i> gene are relatively common. Moreover, low-dose prednisone therapy can improve patients' exercise ability and prolong survival and may be a promising new avenue for <i>ISPD</i> therapy.2021-01-01T00:00:00Z20212025-04-27T03:02:36.443Z2022-02-11T10:17:57.51ZS-EPMC84164363448519810.3389/fped.2021.710553