Familial dysautonomia

Familial dysautonomia or hereditary sensory neuropathy type III, also called Riley-Day syndrome, is a hereditary disease. It affects the vegetative nervous system. It was described by Conrad Milton Riley and Richard Lawrence Day 1949. It is an autosomal recessive hereditary and affects almost exclusively Ashkenazi Jews: Every 30 Ashkenazi Jew is a carrier of the disease. Research is conducted, among others, at Fordham University in New York City and at Hadassah Hospital in Jerusalem.

Symptoms

Main features of the disease are missing tear fluid and the non-existent coordination of the digestive system. It may appear extreme fluctuations in blood pressure in short intervals. A Hyp and analgesia with lack of hot and cold sensation can cause any damage because these protective effects are missing. Short stature, spinal curvature, gait disturbance and speech problems occur frequently. Already in infancy leads to frequent swallowing and vomiting.

Therapy

A treatment of the genetic disorder is not currently possible. Symptoms of the disease, however, make necessary therapeutic interventions. In severe failure coordinations of the digestive tract, such as frequent ingestion, percutaneous endoscopic gastrostomy ( PEG), an artificial gastric tube is partially done, set. The absence of tear fluid requires regular administration of eye drops in order to maintain the eye from drying out.

Prevention

Parents can have a check whether they are carriers of the genetic defect.