Infantile Neuroaxonal Dystrophy
It is possible that the main title of the report Infantile Neuroaxonal Dystrophy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Seitelberger Disease
- neurodegeneration with brain iron accumulation 2A (NBIA2A)
- prenatal/connatal neuroaxonal dystrophy
- INAD, atypical
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
United Leukodystrophy Foundation
224 N. 2nd St.
DeKalb, IL 60115
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126