Seitelberger disease
Seitelberger's neuroaxonal dystrophy
infantile neuroaxonal dystrophy , INAD (skrót)

Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement.

Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system.

In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly.

Mutations in the PLA2G6 gene have been identified in most individuals with infantile neuroaxonal dystrophy.

In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia.

Mutations in the NAGA gene, resulting in alpha-N-acetylgalactosaminidase deficiency, cause an infantile neuroaxonal dystrophy known as Schindler disease.

Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons.

Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak.

Although it is unknown how changes in this enzyme's function lead to the signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder and a related disorder called pantothenate kinase-associated neurodegeneration.

Researchers are studying the links between phospholipid defects, brain iron, and damage to nerve cells, but have not determined how the iron accumulation that occurs in some individuals with infantile neuroaxonal dystrophy may contribute to the features of this disorder.

The symptoms and physical characteristics associated with infantile neuroaxonal dystrophy are the result of swelling and degeneration of nerve endings (dystrophic axonal swellings or "spheroids") within and without areas of the brain and spinal cord (central nervous system).