ABOUT THE SPATA5 DISEASE

Our children were born with a congenital disease - a mutation in the SPATA5 gene. It is a very rare disease that was first described in 2015. Currently, we know of about 150 people with this syndrome from all over the world. The mutation in the SPATA5 gene affects the development and function of the brain. Common symptoms include severe intellectual disability, generalized intractable epilepsy, hearing loss, central muscle hypotonia, and impairment of gross and fine motor skills. SPATA5 can also manifest through gastrointestinal problems, spasticity, microcephaly, and visual impairment.

SPATA5 is also known as EHLMRS (epilepsy, hearing loss and mental retardation syndrome).

This is a very impactful disease, and the most severe cases end in death.

Some of SPATA5 studies for professionals/specialists