GIANT AXONAL DISEASE

SYMPTOMS

Signs of giant axonal neuropathy commonly occur in young children, around the age of seven. Both the peripheral and central nervous systems are afflicted. The CNS and PNS brain and spinal cord expand across all other parts of the body from the brain and spinal cord. Moreover, symptoms may include:

•  Intellectual disability
•  muscle coordination disability (ataxia)
•  decreased reflexes
•  low tone of muscles (hypotonia)
•  seizures and muscle weakness are all symptoms

The so-called toe sign of Babinski is often positive, which indicates the involvement of the central motor pathways, referring to purely peripheral neuropathies.

It is rapidly progressive, usually leading to dependence on a wheelchair. Most young people with this syndrome have pale, curled hair, opposite to their parents. Skeletal anomalies, including scoliosis and foot deformities, are thought to be the cause of the condition.

DIAGNOSIS

Specialized tests and clinical indicators, like nerve conduction velocity, peripheral nerve biopsy, and MRI are used to diagnose the disorder. The defining finding of a peripheral nerve biopsy is the formation of a “giant axon” induced by neurofilament buildup. Molecular genetic tests on gene abnormalities of the disease are available if the diagnosis is ready to be confirmed. Furthermore, negative mutation screening of the disease gene region containing the protein does not rule out the diagnosis of giant axonal neuropathy.

TREATMENT

It is only symptomatic in terms of treatment. Children with this kind of disease and their families usually work with a medical team that consists of:

•  Physiotherapist
•  Pediatric Neurologist
•  Psychologist
•  Orthopedic Surgeon
•   Speech and Occupational Therapists

 The main objectives of treatment include:

• maximizing physical development and intellectual development
• minimizing its deterioration over time

Children with this disease develop normally intellectually and can attend school on a regular basis. Children must be monitored at least every year for evaluation of their cognitive abilities and neurological impairment.