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Mutations in the RXYLT1gene cause a subtype of dystroglycanopathy—Muscular Dystrophy-Dystroglycanopathy Type A10 (MDDGA10)—which belongs to a group of congenital muscular dystrophies characterized by defective glycosylation of -dystroglycan. These conditions often present with muscle weakness, structural brain abnormalities, and ocular involvement.

RXYLT1-related disease is inherited in an autosomal recessive manner. Although its prevalence is unknown, it is considered rare. Clinical severity varies widely, ranging from severe congenital forms to milder phenotypes.

Recent evidence suggests that the degree of -dystroglycan hypoglycosylation, as well as the underlying genotype, significantly influences disease severity and clinical presentation.