INFORMATION ON INFANTILE NEUROAXONAL DYSTROPHY

Infantile neuroaxonal dystrophy is a rare inherited neurological disorder.. It affects the nerve axons which works as carry of messages in the brain and other parts of the body, causing progressive loss of vision, and physical and mental skills. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp.

SYNONYMS OF INFANTILE NEUROAXONAL DYSTROPHY

1. Neuroaxonal Dystrophy,
2. Juvenile
3. Seitelberger's Disease
4. Adult Neuroaxonal Dystrophy
5. Infantile Neuroaxonal Dystrophy

CAUSES OF INFANTILE NEUROAXONAL DYSTROPHY

While the basic genetic and metabolic causes are unknown, Infantile Neuroaxonal Dystrophy is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes.
It is not certain how or why spheroid bodies’ deposits build up on the nerves but it is likely that the normal process whereby the body clears unwanted chemicals is not working properly due to the gene responsible for this action being faulty.

SYMPTOMS OF INFANTILE NEUROAXONAL DYSTROPHY

In patients the clinical course is typical, with rapid motor and mental deterioration and progression was slower and the clinical picture was different. Electromyographic signs of chronic denervation, fast rhythms and abnormal visual evoked potentials were observed in all patients during the disease course. Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech. Some children may have seizures. Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears.

DIAGNOSIS OF INFANTILE NEUROAXONAL DYSTROPHY

The diagnosis is made by examining a piece of skin or conjunctiva, under a microscope, and confirming the presence of the ‘spheroid bodies’ in the nerve axons contained within it. Spheroid bodies are found in other related, but different, disorders but the symptoms the children have, and the age at which they appear, along with the laboratory results, confirm the diagnosis. They use magnetic resonance imaging in diagnosing infantile neuroaxonal dystrophy.

TREATMENT OF INFANTILE NEUROAXONAL DYSTROPHY

There is no cure for Infantile Neuroaxonal Dystrophy and no treatment that can stop the progress of the disease. Treatment is symptomatic and supportive. Doctors can prescribe medications for pain relief and sedation. Physiotherapists and other physical therapists can teach parents and caregivers how to position and seat their child, and to exercise arms and legs to maintain comfort. Drugs can be given to treat infections, pain relief and sedative drugs can be given if required, and feeding can be assisted.