It is a type of Leukodystrophy where the cause is a fault in the myelin sheath round the nerves in the brain. Features of the condition are a rolling nystagmus, initial hypotonia followed by hypertonia leading to spasticity.
Developmental delay occurs, and physical skills gradually deteriorate.
Onset of the condition usually occurs in infancy. This is at present being researched. Genetic advice is available at Regional Genetic Centres. The Group is a small informal Contact Group and can be reached through Contact a Family. The group represents 26 families with affected children.