Dysautonomia, Familial (ELP1), 2 Variants

Use

Familial dysautonomia is a debilitating disease caused by abnormal development and survival of sensory, sympathetic, and parasympathetic neurons. It manifests with symptoms like gastrointestinal dysfunction, vomiting and autonomic crises, recurrent pneumonia, altered sensitivity to pain and temperature, scoliosis, and cardiovascular instability. Additional characteristics include infantile hypotonia, deteriorating wide-based ataxic gait, and decreased life expectancy. It is most prevalent in individuals of Ashkenazi Jewish descent, with an incidence of 1 in 3,600. The condition is inherited in an autosomal recessive manner, and the test targets ELP1 pathogenic variants.