Schindler disease is an inherited disorder that primarily causes neurological problems.
There are 3 forms of this condition:
- Infantile Schindler disease (the least common form) starts presenting at 8-15 months. The baby stops learning new skills and begins to regress, losing the skills they already learned. As this progresses, vision loss, seizures, and eventually loss of awareness of surroundings lead to early death.
- This is a milder version of the disease, which presents in adulthood. Affected individuals may experience cognitive impairment, hearing loss, weakness and loss of sensation, and formation of angiokeratomas (enlarged clusters of blood vessels).
- This is an intermediate between the two above where symptoms may begin in infancy. This may include developmental delay, seizures, a weakened and enlarged heart, and an enlarged liver. In other cases, symptoms do not start until childhood, presenting more like an autism spectrum disorder.
All forms of Schindler disease are caused by pathogenic (disease-causing) variants in the NAGA gene and exhibit autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
The International Society for Mannosidosis and Related Diseases
Written August 2024
