Treatment of Familial Dysautonomia

Although the FD gene has been identified and it seems to have tissue specific expression at present, there is no definitive treatment. Thus treatment remains preventative, symptomatic and supportive.

Although penetrance is complete, there is marked variability in expression of the disease. Problems can vary considerably among patients and with different ages, so it is recommended that patients avail themselves of the specialized resources to obtain individualized treatment plans.

Some of the more commonly needed treatments are as follows:

• artificial tears
• feeding techniques
• special therapies (feeding, occupational, physical, speech)
• management of autonomic manifestations such as vomiting
• respiratory care
• protecting the child from injury (coping with decreased taste, temperature and pain perception)
• treatment of orthopedic problems (tibial torsion and spinal curvature)
• compensating for labile blood pressures