Giant axonal neuropathy (GAN) is characterized by a severe early-onset peripheral motor and sensory neuropathy, central nervous system involvement (mental retardation, seizures, cerebellar signs, and pyramidal tract signs), and characteristic tightly curled hair. Most individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade.

Giant Axonal Neuropathy

The main feature of this disease is presence of gaint axons. It occurs due to mutations in the gene GAN encoding the protein gigaxonix.

Diagnosis

• Nerve conduction velocity shows normal to moderately reduced nerve conduction velocity, severely reduced compound motor action potentials and absent sensory nerve action potentials.
• EEG shows increased slow wave activity.
• Auditory brain stem eviked responses, visual evoked responses and somatosensory evoked responses are abnormal.
• Brain MRI shows matter abnormalities with high signals on T2 sequences in the anterior and posterior periventricular regions and in cerebellar white matter.
• Peripheral nerve biopsy demonstrates gaint axons

Treatment

• Speech therapy.
• Occupational therapy.
• Physiotherapy.
• Foot deformitis are treated with orthopedic surgery.
• Genetic counselling.

Complications

• Has to be bed ridden or wheel chair bound.
• Decubitus ulcer.
• Peripheral neuropathy.
• Intellectual disabilitis.
• Cranial nerve dysfunction.
• Ataxia.
• Spasticity.