Family dysautonomy
| Classification according to ICD-10 | |
|---|---|
| G90.1 | Familial dysautonomia (Riley Day syndrome) |
| ICD-10 online (WHO version 2019) | |
The familial dysautonomia or hereditary sensory neuropathy type III (also Riley-Day syndrome ), is a genetic disease . It affects the autonomic nervous system .
The disease was first described by Conrad Milton Riley and Richard Lawrence Day in 1949. It can be inherited as an autosomal recessive trait and almost exclusively affects Ashkenazi Jews: every 30th Ashkenazi Jew is a carrier of the disease. Research is carried out at Fordham University in New York City and at Hadassah Hospital in Jerusalem , among others .
Symptoms
The main characteristics of the disease are a lack of tear fluid and the lack of coordination of the digestive system. Extreme fluctuations in blood pressure can occur at short intervals. Hyp- and analgesia with a lack of hot and cold sensations can lead to consequential damage because these protective effects are lacking. Short stature , curvature of the spine, gait disorders and language difficulties occur more frequently. Even in infancy, there is frequent swallowing and vomiting .
therapy
Therapy for the genetic disorder is currently not possible. However, the symptoms of the disease make therapeutic interventions necessary. In the case of pronounced miscoordination of the digestive tract, such as frequent swallowing, a percutaneous endoscopic gastrostomy (PEG) is sometimes performed and an artificial gastric tube inserted. The lack of tear fluid requires regular application of eye drops to keep the eye from drying out.
prevention
Parents can have themselves examined whether they are carriers of the genetic defect.
