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GENETIC DISEASES: HUNGTINGTON DISEASE AND CRI DU CHAT SYNDROME.

GENETIC DISEASES: HUNGTINGTON DISEASE AND CRI DU CHAT SYNDROME. What is a Genetic disease?. Genetic disease : is an illness caused by abnormalities in genes or chromosomes. GENETIC DISORDERS can be caused by…. -Mutations. (Spontaneous mutation) -Cell division. -Inheritance.

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GENETIC DISEASES: HUNGTINGTON DISEASE AND CRI DU CHAT SYNDROME.

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  1. GENETIC DISEASES: HUNGTINGTON DISEASE ANDCRI DU CHAT SYNDROME.

  2. What is a Genetic disease? • Genetic disease: is an illness caused by abnormalities in genes or chromosomes. • GENETIC DISORDERS can be caused by… -Mutations. (Spontaneous mutation) -Cell division. -Inheritance

  3. HUNGTINGTON DISEASE? • HD-inherited disease that causes breakdown of nerve cells in the brain, that results in loss of physical control and mental capacity.. -Age vary from person to person. -Some individuals develop symptoms of HD when they are very young-"Juvenile" HD-inheritance

  4. SYMPTOMS • If a personinheritsthedefective gene-braincells in thenervoussystemwillstartto die. Thisiswhen a personbeginstodevelop thesymptomsof HD which are the following: Movement disorders -Involuntary contracture of muscle-Muscle rigidity -Slow, uncoordinated fine movements –Slow movements Difficulty production of speech -Difficulty swallowing Intellectual or emotional disorders - short-term memory loss; -less ability to organise routine tasks-periods of depression, -apathy; and impulsiveness.

  5. How common is Hungtington`s disease? -Western countries -aboutfivetosevenpeople per 100,000 are affectedby HD. A veryhighconcentration of HD has alsobeenfound in theregion of Venezuela.

  6. Is there any cure?Any goals for the future? • At this time-no way to stop or reverse the course of HD. • HD gene has been located, investigators -study the HD gene. • trying to understand how it cause disease in the human body.

  7. Cri Du Chat Syndrome (Lejeune’s syndrome) • “Chromosome 5p deletion syndrome”. • What is Cri du Chat Syndrome?: • It`s a genetic disorder caused by a missing part of chromosome 5.

  8. Symptoms. • Disorders in the circulatory system and in the formation of the intestine. • A characteristic cry very similar to cats. • Low birth weight and poor growth. • Speech, and motor delays. • Growth retardation. • Small cranium. • Lips and paladin are spliten.

  9. Prevention and treatment. • As the causes are mostly ignored, there is no cure at all. -Some drugs. -Treatments to improve speech and social abilities. -Improve gene therapy.

  10. Resources • http://www.humanillnesses.com/original/Gas-Hep/Genetic-Diseases.html • http://www.medicalnewstoday.com/articles/159552.php • http://www.ahdansw.asn.au/information/faq_what.html • http://www.psicodiagnosis.es/areaclinica/sindromesgeneticos/sindromecriduchatmaullidodegato/index.php

  11. We hope you have enjoyed! • Created by: Leyre Palomares de la Revilla & Belén García Pascual.

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