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Genetic and Rare Diseases Information Center (GARD)

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Neuroaxonal dystrophy, infantile


Other Names for this Disease
  • INAD
  • Infantile neuroaxonal dystrophy
  • Seitelberger disease
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Your Question

Can you tell me more about neuroaxonal dystrophy, infantile? I think my friend's daughter might have this condition.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is neuroaxonal dystrophy, infantile?

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

What are the symptoms of neuroaxonal dystrophy, infantile?

The classic form of neuroaxonal dystrophy, infantile is often diagnosed in children aged 6 months to 3 years. Signs and symptoms may include low muscle tone, a decline in mental and motor skills, pyramidal tract signs (signs of central nervous system disease), cross-eyes, nystagmus, and optic atrophy. Children with this disease may never learn to walk, or lose the ability soon after attaining it. As the condition worsens it causes spasticity (stiff muscles), vision impairment, and sometimes hearing impairment.[3] Children with this disorder experience progressive deterioration of cognitive functions (dementia), and eventually lose awareness of their surroundings.[2] Lack of muscle strength causes difficulty with feeding and breathing problems that can lead to frequent infections, such as pneumonia. Seizures occur in some affected children.[2] Children with classic disease often pass away during the first decade of their life.[3]

Atypical disease is more variable. Onset tends to be in early childhood. Signs and symptoms may include difficulty walking or ataxia, speech delay, and autistic features. The course is fairly stable during early childhood but progressively worsens between the ages of 7 and 12 years.[2]

Last updated: 7/15/2009

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

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 8/2/2013

References