CHILDHOOD GIANT AXONAL NEUROPATHY

Overview and Facts

Childhood Giant Axonal Neuropathy (GAN) is a genetic infection that affects both the brain and the spinal cord of children. Mostly, the patients with GAN will experience manifestations before five years old. Usually, the peripheral nervous system—which handles sensation and movement in the legs, arms, and other areas of the body—is often where GAN signs start. Also, it is characterized by grumpiness and muscular weakness that develops from a “waddling gait” to a noticeable difficulty in walking.

It is the uncommon disease that affects children, both girls and boys. Moreover, the incidence of giant axonal neuropathy and the number of carriers of one faulty copy of the GAN gene are still unknown.

Types and Symptoms

SYMPTOMS

Giant axonal neuropathy indications often appear in early infancy and worsen over time. The most typical symptoms of childhood giant axonal neuropathy are:

Furthermore, autonomic nervous systems, which regulate automatic body function, may be affected by GAN. Infected people may also suffer heat intolerance, constipation, urine release (neurogenic bladder), and a decrease or lack of sweating capacity.

Diagnosis & Medications

DIAGNOSIS

To diagnose childhood giant axonal neuropathy, your doctor may request the following tests:

  • Nerve conduction velocity
  • Brain MRI
  • Peripheral nerve biopsy 

These tests are used to determine childhood giant axonal neuropathy. The development of “giant axons” produced by the buildup of neurofilaments is the characteristic result of a peripheral nerve biopsy. Moreover, diagnosis may be confirmed via molecular genetic testing for changes in the GAN gene. 

TREATMENT

GAN patients and their families are often treated by a professional team consisting of orthopedic surgeons, pediatric neurologists, psychologists, physiotherapists, and speech and occupational therapists. 

The primary objectives of therapy are to promote intellectual and physical growth while minimizing deterioration over time. Also, many children with GAN grow normally intellectually and are allowed to join a regular school program. However, children should be evaluated at least once a year to check their cognitive skills and search for signs of neurological degeneration.

Talking to your doctor about GAN treatment options will be extremely beneficial to sustaining a positive life. 

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