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
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.
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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