This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Familial dysautonomia (FD) affects nerve cells in the autonomic nervous system, the part of the nervous system that controls involuntary functions like breathing and digestion. The symptoms of FD are present at birth and include difficulty swallowing, and poor control of blood pressure, body temperature and breathing. Other symptoms may include the inability to make tears or feel pain, vomiting episodes, frequent pneumonia, and difficulty walking. Over time, the symptoms of FD tend to get worse and are often life-threatening. FD is caused by genetic variations in the ELP1 gene, and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and the results of genetic testing. Treatment is focused on managing the symptoms.
For more information, visit GARD.