Familial Dysautonomia
Familial dysautonomia (FD) is a genetic disorder that falls within the larger group of disorders known as HSAN.
Unlike the other HSAN, FD has been noted only in individuals of Ashkenazi Jewish extraction and so it is also considered as one of the Jewish genetic diseases. It is caused by a specific gene mutation and can be included in general Jewish genetic screening programs.
As a result of the gene mutation that causes FD, development and survival of sensory and autonomic nerve cells is affected.
Individuals with FD have difficulty with involuntary actions such as swallowing, breathing, production of tears, and the regulation of blood pressure and body temperature.
They also have problems with some sensory functions such as taste and the perception of pain, heat, and cold.
