Definition:
Giant Axonal Neuropathy is an uncommon, autosomal recessive neurogical syndrome that affects the neurofilaments and at the same time disorganizes it. A structural frame is being formed by the neurofilament to help characterize neurons shapes and sizes which are necessary for the nerve to function normally.
Diagnosis:
This illness appears during the infancy or in their early childhood and they progress slowly as the more cells becomes involved.
Symptoms and Signs:
Patients with this illness will first have a difficulty in walking. After that, sensation, coordination, strength, and reflexes in their limbs will begin fail. They will also have problems with their hearing and with their vision. A very kinky hair is one of the characteristics of having giant axonal neuropathy and it appears to almost all people that are affected with this disease.
The central nervous system will also be affected if the illness continues and causes a slow decline in their mental function and losses its control in the movement of their body and seizures.
Causes:
The cause of this illness is genetically. If both of the parents of a child will have one defective gene which is located on an autosome, the child may have the giant axonal neuropathy disorder or he may not be affected with this disorder.
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