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Neuroaxonal dystrophy, infantile

Other Names for this Disease
  • INAD
  • Infantile neuroaxonal dystrophy
  • Seitelberger disease
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Neuroaxonal dystrophy, infantile is a type of lipid storage disorder[1] that primarily affects the nervous system.[2] It has two forms, a classical form and an atypical form.[3] 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.[2] Neuroaxonal dystrophy, infantile is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.
Last updated: 7/15/2009


  1. McGovern MM. Lipid storage disorders. eMedicine. 2009; Accessed 7/14/2009.
  2. Infantile neuroaxonal dystrophy. Genetics Home Reference. 2007; Accessed 7/14/2009.
  3. Gregory A, Hayflick SJ. Infantile neuroaxonal dystrophy. GeneReviews. 2008; Accessed 7/14/2009.
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