Familial Dysautonomia GodfreyShabaya

Overview What is Familial Dysautonomia? Quick facts Causes Symptoms Detection Treatment Prevention Research

What is FD? Familial Dysautonomia (FD) is a rare genetic neurological condition that affects the sensory and autonomic nervous systems, causing severe gastrointestinal, cardiac, pulmonary, orthopedic, renal and ophthalmologic problems.

Quick Facts Symptoms: Symptoms and severity vary in each patient. Symptoms include:  Absence of overflow tears / corneal drying Poor suck at birth Drooling Swallowing & feeding problems

Poor weight gain and growth Impaired renal function Spinal curvature Poor weight gain and growth Impaired renal function Fainting and cardiac arrhythmias Restrictive lung disease Delayed developmental milestones: motor, language, social Average lifespan: Currently, the mean age of the FD population is approximately 15 years. What is the basis of disease: Inefficient gene splicing results in decreased production of a vital protein called IKAP.

Causes and Influences Genetics 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.

Symptoms (Alcoholism-statistics, 2004) Craving: A strong need, or compulsion, to drink. Loss of control: The frequent inability to stop drinking once a person has begun. Physical dependence: The occurrence of withdrawal symptoms, such as nausea, sweating, shakiness, and anxiety, when alcohol use is stopped after a period of heavy drinking. These symptoms are usually relieved by drinking alcohol or by taking another sedative drug. Tolerance: The need for increasing amounts of alcohol in order to get "high."

Detection At present, familial dysautonomia is officially diagnosed based on the presence of the following set of clinical symptoms 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.

Treatment There is NO cure 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.

Prevention No known prevention to date

Research 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.

Conclusion Familial Dysautonomia (FD) is a rare genetic neurological condition that affects the sensory and autonomic nervous systems. 1 in 30 Ashkenazi Jews are carriers of the more common FD mutation No known cure to date No known prevention to date

References www.Dysautonomia Foundation, Inc. retrieved 7/25/2009 www. http://www.ujc.org retrived7/25/2009 http://www.familialdysautonomia.org/ 

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