Infantile Neuroaxonal Dystrophy

Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood, but can start as late as the teens. Infantile neuroaxonal dystrophy is caused by changes (pathogenic variants) in the PLA2G6 gene and is inherited in an autosomal recessive pattern.