Savannah barnes Combs 1st period 11/29/30 Familia dysautonomia Savannah barnes Combs 1st period 11/29/30

description Familia dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the automatic nervous system. Which controls involuntary actions such as digestion, breathing , and production of tears. Also the regulation of body temperature and blood pressure. https://www.youtube.com/watch?v=XaI84_ANroQ

Causes of disease An autosomal recessive gene Is not a sex-linked gene It is not a non-disjunction gene The trait is inherited through the parents genes when the offspring is growing and developing in mothers womb Chromosome 9q31-33 is affected A healthy gene differs from an afflicted gene by not being mutaded, deleted *Autosomal recessive gene: 2 copies of abnormal gene must be present for trait to appear

Facts about disease Mostly in Ashkenazi Jewish descents 1/3700are affected in Ashkenazi population (extremely rare in general population) Happens during growth and development in mothers wound and progresses with age Inherited by an autosomal recessive pattern *parents with autosomal recessive condition each carry 1 copy of mutated gene but don’t show signs or symptoms of condition

Affect on the body Low muscle tone in infancy heart instability Decreased/absence of tears when crying autonomic crisis: cant regulate response to stress Reflux, vomiting can occur at any time and may lead to hospitalization Inability to compensate for low oxygen levels in blood Curvature of spine Poor coordination Cant swallow Cannot respond to: pain , heat, or cold Sweating Lack of homeostasis Dizzy spells

Testing and screening Genetic testing Blood test

treatment Artificial tears Medications to control abnormal blood pressure, nausea, and vomiting Early intervention Physical therapy Aggressive language and learning thearphy Disease can be life ending Life expectancy to age 40

Interesting facts Skin and lips can be bluish Only in jewish population

bibliography https://www.youtube.com/watch?v=sfVg83qEIGA Ghr.nlm.gov/condition/familia-dysautonomia www.jewishgnetics.org/familia-dysautonomia http://www.familialdysautonomia.org/facts.htm https://prezi.com/ga4vspjjmpal/familial-dysautonomia/ http://www.gaucherdisease.org/faq.txt http://www.jewishgeneticdisordersuk.org/index.php?/jewish_genetic_disorders/ashkenazi_disorders/f amilial_dysautonomia http://differentgenetictesting.yolasite.com/