The clinical symptoms of the spinal form develop secondary to axonal loss with cord atrophy. Each family tends to have its own mutation. New mutations indicate a need to think of the condition even when there is no prior family history. However, there is no effect on rate of demyelination and neurologic deterioration. A recent report suggests benefit from 4 phenylbutyrate.
Genetic counseling is required.
A student, had developed difficulty learning at school over the period of 18 months. This initially had been considered to have been secondary to behavioral problems. Six months prior to presentation the mother had noticed that his vision had worsened over a period of several weeks. There was also a history of stumbling and falling over a period of the preveious 2 months. The past medical history was unremarkable except for a history of skin darkening over the preveious three years.