Name of disease: familial dysautonomia (FD), also known as
Symptoms: FD causes dysfunction of the autonomic and sensory
nervous systems. It is a progressive disease. Symptoms and severity
vary in each patient. Symptoms include:
Average lifespan: Currently, the mean age of the FD population is approximately 15 years. By statistical projection, babies born with FD in 2006 have a 50% chance of surviving to 40 years of age. The major causes of death are the result of pulmonary complications or sudden death due to autonomic instability.
What is the basis of disease: Inefficient gene splicing results in decreased production of a vital protein called IKAP. This protein is an essential component of a complex that aids in expression of multiple other target genes that are critical for growth and development of the sensory and autonomic nervous systems as well as their function.
Treatment or management: At present, only supportive treatments are available. Supportive therapies include topical lubrication of the eyes and medications to maintain and regulate cardiovascular, respiratory, and gastrointestinal function. Surgical interventions include fundoplication, gastrostomy, spinal fusion, and tear duct cautery. Various therapies are used to promote strength and speech development.
Carrier testing: Carrier testing is available for the two most common mutations. All patients have one or two copies of a single splicing mutation; over 99% of cases of FD in the Ashkenazi Jewish (AJ) population have two copies of this splicing mutation. A second mutation paired with the AJ splicing mutation accounts for all other cases in the AJ population. A third mutation from a non-Jewish parent, again paired with the AJ splicing mutation, is responsible for a single case of FD.
Other testing information: Carrier screening is based on DNA analysis. Screening is 99% accurate for the AJ population.
Current research: Research focuses on modifying the splicing defect in order to increase production of IKAP as well as to further understand the role of this vital protein. Researchers are also constructing an FD mouse model to further this aim. Clinical investigations include assessment of sleep physiology and assessment of molecular and functional biomarkers.
(c) 2006 Dysautonomia Foundation, Inc.