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Familial Dysautonomia

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

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Familial Dysautonomia

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  1. Familial Dysautonomia GodfreyShabaya

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

  3. 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.

  4. 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

  5. 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.

  6. 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.

  7. 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."

  8. 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.

  9. 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.

  10. Prevention • No known prevention to date

  11. 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.

  12. 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

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

  14. References • Kendler, K.S., Heath, A.C., Neale, M.C., Kessler, R.C., & Eaves, L.J. A population-based twin study of alcoholism in women. Journal of the American Medical Association, 268, p1877-1882. • Koskenvuo, M., Langinvainio, J., Kaprio, J.; Lonnqvist, J., & Tienari, P. (1984). Psychiatric hospitalization in twins. Acta Geneticae Medicae et Gemellologiae 33, p321-332. • McGue, M. (1990). The behavior genetics of alcoholism. Current Directions in Psychological Science, 8, p109-115. • NIAAA, (2008). Brochure from National Institute on alcohol abuse and alcoholism. Retrieved July 25, 2008 from http://www.niaaa.nih.gov/publications/booklet.htm • Perkinson, R. (2008). Alcoholism. Retrieved July 24, 2008, from http://www.robertperkinson.com/ • Preuss, U., Schultz, G., Wong, W., Watzke, A., Barnow, S., & Zimmermann, J. (2004, October). Current Perspectives in Genetics and Genomics of Alcohol Dependence. Current Genomics, 5(7), 601-612. Retrieved July 27, 2008, from Academic Search Premier database. • Uhl, G.R., Liu, Q.R., & Naiman D. (2002). Substance abuse vulnerability loci: converging genome scanning data. Trends Genet, 18, p.420-425.

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