The NARS1 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childbirth and early childhood, but they typically appear around 6 months of age. The first signs of the condition are usually seizures and/or neuropathy as well as problems with movement that might seem like clumsiness, and delay in acquiring central and motor skills.
The incidence of the NARS1 disease is unknown; around 35 cases have been described in the scientific literature. The life expectancy of people with NARS1 disease varies; data received so far shows that affected individuals usually survive into teenage years.
This condition is inherited in both an autosomal recessive pattern, which means both copies of the gene in each cell have mutations, as well as an autosomal dominant (de novo) pattern which means that which means that neither parent has the mutation. The parents of an individual with either an autosomal recessive or dominant condition typically do not show signs and symptoms of the condition.
NARS1