Schindler disease

At this time, the affected infant will begin to lose previously acquired skills involving the coordination of physical and mental behaviors.

Additional neurological and neuromuscular symptoms such as diminished muscle tone, weakness, involuntary rapid eye movements, vision loss, and seizures may become present.

Other symptoms include neuroaxonal dystrophy from birth, discoloration of skin, and telangiectasia or widening of blood vessels.

However, Type II Schindler disease, with its late onset of symptoms, is not characterized by neurological degeneration.

It is also named after the Japanese biochemist and physician, Hiro Kanzaki (born 1949), who further studied it and released papers detailing the disease in 2006.