Clinical features
EIF2AK1-related LEMSPAD syndrome is a syndromic neurodevelopmental disorder with major involvement in the nervous system. It is characterized by developmental delay, progressive lower extremity spasticity, hypertonia, dysarthria, anxiety, and attention deficit hyperactivity disorder (ADHD). Additional features noted include urinary and fecal urgency, and slow finger tapping movements.
Prevalence
In 2020, EIF2AK1-related LEMSPAD syndrome was recognized in a single 6 year old individual. As the sample size is too low, more studies and patients would be needed to determine an unbiased prevalence of the syndrome.
Inheritance
EIF2AK1-related LEMSPAD syndrome, caused by an EIF2AK1 gene missense mutation, is inherited in an autosomal dominant manner. The patient reported by Mao et al. (2020), result from a de novo variant and the recurrence risk for future pregnancies is low (<1%). Prenatal testing is technically feasible, but the likelihood of recurrence in families who have an affected child is low.