Families

Children with mutations in the HACE1gene are born with a condition called Spastic Paraplegia and Psychomotor Retardation with or without Seizures (SPPRS). SPPRS is inherited in an autosomal recessive manner, which means that two parents can unknowingly be carriers of the mutation and have a child with SPPRS even if they are healthy themselves. However, the condition is extremely rare and can be discovered by genetic testing during pregnancy. Without genetic testing, the condition is usually discovered in the first few months of life.

SPPRS leads to severe disability with complex symptoms across the entire body and brain. Most commonly, these include symptoms include developmental delays and moderate to severe intellectual disability, as well as muscle tone and movement issues.