Giant axonal neuropathy (GAN) is a genetic disorder characterized by unusually large and defective axons, which are the specialized extensions of nerve cells that conduct nerve signals. In most instances, it is a serious, slowly progressing neurodegenerative condition marked by kinky hair, central nervous system dysfunction, and growing sensory and motor peripheral neuropathy.

Furthermore, giant axonal neuropathy is caused by an inherited autosomal recessive form, which implies that a kid with GAN has a copy of the defective gene in both parents. Usually, parents will exhibit no indicators of the condition. At the same time, most youngsters with GAN will develop symptoms before they turn five years old.


The peripheral nervous system that regulates movement and feeling in the legs, limbs, and other body regions is where giant axonal neuropathy generally starts. GAN symptoms comprise carelessness and muscular weakening that escalates from a waddling gait to a noticeable problem walking. Other symptoms are:

  • Cognitive development impairment
  • Nystagmus
  • Seizures
  • Arm and leg numbness or loss of sensation

Furthermore, trouble breathing or eating, convulsions, paralysis, and slow deterioration in cognitive performance, particularly dementia, may all happen as the illness advances. Most persons with GAN do not live into their twenties.


Numerous tests are used to identify giant axonal neuropathy, such as one that assesses nerve conduction velocity, a brain MRI, and a peripheral nerve biopsy, wherein a piece of tissue from a peripheral nerve is taken and evaluated for enlarged axons. Meanwhile, a precise diagnosis based on genetic testing is only available for further study.


The only way to address giant axonal neuropathy is to treat the symptoms. The following healthcare professional often treats kids with GAN and their families:

  • Occupational and speech therapists
  • Psychologist
  • Physiotherapist
  • A surgeon specializing in orthopedics
  • A pediatric neurosurgeon

The primary aims of therapy are to optimize intellectual and physical growth while minimizing deterioration over time. Numerous kids with giant axonal neuropathy have normal cognitive development and may regularly attend school.

Additionally, children must be evaluated at least once a year to examine their cognitive capacities and search for signs of neurological impairment.

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