FAMILIA DYSAUTONOMIA SAVANNAH BARNES COMBS 1 ST PERIOD

FAMILIA DYSAUTONOMIA SAVANNAH BARNES COMBS 1 ST 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= XAI 84_ANROQ

CAUSES OF DISEASE *Autosomal recessive gene: 2 copies of abnormal gene must be present for trait to appear • • 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 9 q 31 -33 is affected • A healthy gene differs from an afflicted gene by not being mutaded, deleted

FACTS ABOUT DISEASE • MOSTLY IN ASHKENAZI JEWISH DESCENTS • 1/3700 ARE 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=SF VG 83 QEIGA GHR. NLM. GOV/CONDITION/FAMILIA-DYSAUTONOMIA • WWW. JEWISHGNETICS. ORG/FAMILIA-DYSAUTONOMIA • HTTP: //WWW. FAMILIALDYSAUTONOMIA. ORG/FACTS. HTM • HTTPS: //PREZI. COM/GA 4 VSPJJMPAL/FAMILIAL-DYSAUTONOMIA / • HTTP: //WWW. GAUCHERDISEASE. ORG/FAQ. TXT • HTTP: //WWW. JEWISHGENETICDISORDERSUK. ORG/INDEX. PHP? / JEWISH_GENETIC_DISORDERS/ASHKENAZI_DISORDERS/FAM ILIAL_DYSAUTONOMIA • HTTP: //DIFFERENTGENETICTESTING. YOLASITE. COM/