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

2. 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.

3. 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

4. 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

5. 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

6. Testing and screening
Genetic testing Blood test

7. 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

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

9. bibliography https://www.youtube.com/watch?v=sfVg83qEIGA
Ghr.nlm.gov/condition/familia-dysautonomia
amilial_dysautonomia