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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neuroaxonal dystrophy, infantile


Other Names for this Disease
  • Seitelberger disease
  • Infantile neuroaxonal dystrophy
  • INAD
  • Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy
  • Neurodegeneration with brain iron accumulation 2B
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Tests & Diagnosis

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How is neuroaxonal dystrophy, infantile diagnosed?

Neuroaxonal dystrophy, infantile is suspected based upon the signs and symptoms in the patient. Genetic testing of the PLA2G6 gene can be used to confirm the diagnosis. You can learn more about the diagnosis of neuroaxonal dystrophy, infantile by visiting GeneReviews.org article on this topic by clicking here.

If your friend is concerned that her daughter may have this condition, we recommend that she discuss her concerns with a physician. She may also find it helpful to have her daughter evaluated by a genetics professional.
Last updated: 7/15/2009


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • Seitelberger disease
  • Infantile neuroaxonal dystrophy
  • INAD
  • Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy
  • Neurodegeneration with brain iron accumulation 2B
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.