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Infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form.

Prevalence

unknown

N/A

US Estimated

N/A

Europe Estimated

Age of Onset

Infancy

ICD-10

G23.0

Inheritance Pattern

Autosomal recessive

5 Facts you should know

FACT

Infantile neuroaxonal dystrophy (INAD) is a progressive, autosomal recessive neurodegenerative disorder most often caused by pathogenic variants in the PLA2G6 gene, leading to abnormal phospholipid metabolism and axonal spheroid formation

FACT

Onset usually occurs in the first 2 years of life with developmental regression, hypotonia, loss of motor milestones, and rapid progression to spasticity and profound neurologic disability

FACT

Ophthalmologic findings such as optic atrophy, nystagmus, and strabismus are common and often serve as early diagnostic clues alongside motor decline

FACT

Brain MRI typically demonstrates cerebellar atrophy, white matter changes, and iron accumulation in the globus pallidus and substantia nigra, features consistent with the neurodegeneration with brain iron accumulation (NBIA) spectrum

FACT

There is currently no curative treatment; management is supportive and multidisciplinary, including seizure control, physical therapy, nutritional support, and assistive care. Prognosis is poor, with many affected children not surviving beyond the first or second decade of life

Interest over time

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