Jansky-Bielschowsky Disease (Neuronal Ceroid Lipofuscinoses):
Late infantile form of neuronal ceroid lipofuscinosis (NCF). It has an onset
between 2 and 4 years of age. Until that time, children appear normal or may
exhibit slight delays in psychomotor development. Clinical features include
seizure episodes characterized by sudden breaks in action or thought,
twitching of certain facial muscles, and petit mal seizures and/or grand mal
seizures. Myoclonic seizures, ataxia, muscle hypotonia, gradual intellectual
deterioration, and progressive blindness may be present. A variant has been
identified in individuals of Finnish descent in whom the symptoms tend to
appear later, at approximately 5 to 7 years of age and progress more slowly.
It is inherited as autosomal recessive traits.