Neuroaxonal dystrophy, infantile

Infantile Neuroaxonal Dystrophy (INAD)

Overview

Type of disease: Rare conditions

Neuroaxonal dystrophy, infantile is a type of lipid storage disorder that primarily affects the nervous system. It has two forms, a classical form and an atypical form. It is usually diagnosed in infancy or early childhood and is characterized by a progressive loss of vision, and physical and mental skills. Most cases are caused by mutations in the PLA2G6 gene. There is evidence that at least one other gene may be involved. Neuroaxonal dystrophy, infantile is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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