This is a hereditary condition of the nervous system with early childhood onset and eventual stabilization. It is one of a number of conditions in which there is degeneration of the optic nerve (optic atrophy) as well as difficulties walking, talking, and swallowing.
The first symptoms are evident in early childhood, sometimes before one year of age. They always appear following an acute viral illness with fever which may be recurrent in childhood. These signs include weakness, difficulty with balance (ataxia), and swallowing problems. Some children seem to recover completely until another febrile episode occurs. Eventually, the recurrent episodes of fever cease but individuals may have developed hearing loss and pallor of the optic nerve with decreased vision. Many have involuntary eye to-and-fro eye movements (nystagmus). Tendon responses (such as knee jerks) are lost and unassisted walking becomes difficult. Slurring of speech is often present but mental functioning remains normal.
A gene mutation is responsible for this condition. The transmission pattern is vertical, i.e., the disease is transmitted from parent to child. Such families can expect a 50% risk among all their children.
A neurologist or pediatrician is most likely to make the diagnosis from the neurological picture but an ophthalmologist (eye doctor) is the most likely physician to diagnose the optic nerve dysfunction.
There is no general treatment for this condition. However, physical therapy and assistive-devices for mobility may be helpful. Low vision aids can be useful.