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Infantile Neuroaxonal Dystrophy

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Robert E. Schmidt, MD, PhD, Professor of Pathology & Immunology, Department of Pathology and Immunology, Division of Neuropathology, Washington University School of Medicine, for assistance in the preparation of this report.

Synonyms of Infantile Neuroaxonal Dystrophy

  • INAD
  • neurodegeneration with brain iron accumulation 2A (NBIA2A)
  • Seitelberger Disease

Disorder Subdivisions

  • INAD, atypical
  • prenatal/connatal neuroaxonal dystrophy

General Discussion

Infantile neuroaxonal dystrophy (INAD) is an extremely rare, inherited degenerative disorder of the nervous system characterized by abnormalities of nerve endings (axon terminals) within the brain and spinal cord (central nervous system) and outside the central nervous system (peripheral nerves and terminals). In most cases, infants and children with INAD appear to develop normally until approximately 14 to 18 months of age, when they may begin to experience progressively increased difficulties in walking. In other cases, symptoms may begin at approximately six to eight months of age, at which time infants may experience delays or an arrest in the acquisition of skills requiring the coordination of mental and physical activities (delayed psychomotor development).

The symptoms and physical characteristics associated with infantile neuroaxonal dystrophy are the result of swelling and degeneration of individual nerve endings (dystrophic axonal swellings or "spheroids") within and outside the brain and spinal cord (central nervous system). In most cases, INAD is inherited as an autosomal recessive genetic trait.

Infantile Neuroaxonal Dystrophy Resources

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., neurological abnormalities, neuromuscular impairment, optic atrophy, etc.].)

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

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