Familial dysautonomia, or hereditary sensory neuropathy type III (also Riley Day Syndrome), is a hereditary disease. It affects the autonomic nervous system.
The disease was first described by Conrad Milton Riley and Richard Lawrence Day in 1949. It is autosomal recessive and affects Ashkenazi Jews almost exclusively: one in 30 Ashkenazi Jews is a carrier of the disease. Research is being conducted at Fordham University in New York City and Hadassah Hospital in Jerusalem, among other places.
Main features of the disease are lack of lacrimation and non-existent coordination of the digestive system. Extreme fluctuations in blood pressure may occur in short intervals. Hyp- and analgesia with absence of hot and cold sensations can lead to sequelae because these protective effects are absent. Short stature, curvature of the spine, gait disturbances and speech difficulties occur frequently. Frequent swallowing and vomiting already occur in infancy.
A therapy for the genetic disorder is currently not possible. However, the symptoms of the disorders make therapeutic interventions necessary. In the case of pronounced malcoordination of the digestive tract, such as frequent swallowing, a percutaneous endoscopic gastrostomy (PEG) is sometimes performed, an artificial stomach tube is placed. The lack of tear fluid requires the regular administration of eye drops to prevent the eye from drying out.
Parents can get tested to see if they are carriers of the genetic defect.
- Dysautonomia, familial. In: Orphanet (database for rare diseases).
- Noa Assmann: Familial dysautonomia – an Ashkenazic hereditary disease. on talmud.de
- Dysautonomia Foundation 2
- Dysautonomia Foundation