What is familial dysautonomia?

Familial dysautonomia (FD) is a rare inherited genetic disease caused by abnormal development of the nervous system. People with FD have problems feeling pain and heat, may have problems with balance and swallowing, and are unable to regulate their body temperature and blood pressure.

Symptoms of FD include severe eye problems, a lack of tears, feeding difficulties, and poor weight gain because of a weak suck reflex. Pneumonia may occur when uncoordinated swallowing allows breast milk or formula into the lungs.

Other common symptoms include lack of coordination, inability to feel pain, poor body temperature regulation, and developmental delays in speech and motor skills. Many children have stunted growth and curvature of the spine (scoliosis).

FD is treated with surgery to help maintain nutrition and prevent pneumonia. Medicines are used to control vomiting, eye dryness, and blood pressure. Support groups and counseling can be helpful for people with familial dysautonomia and for their families. Genetic testing is recommended to identify carriers of the disease and help guide decisions about having children.