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GENETIC DISEASES: HUNGTINGTON DISEASE AND CRI DU CHAT SYNDROME.

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Presentation on theme: "GENETIC DISEASES: HUNGTINGTON DISEASE AND CRI DU CHAT SYNDROME."— Presentation transcript:

1 GENETIC DISEASES: HUNGTINGTON DISEASE AND CRI 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 person inherits the defective gene- brain cells in the nervous system will start to die. This is when a person begins to develop the symptoms of 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 -about five to seven people per 100,000 are affected by HD. A very high concentration of HD has also been found in the region 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/origi nal/Gas-Hep/Genetic-Diseases.html http://www.humanillnesses.com/origi nal/Gas-Hep/Genetic-Diseases.html http://www.medicalnewstoday.com/ar ticles/159552.php http://www.medicalnewstoday.com/ar ticles/159552.php http://www.ahdansw.asn.au/informati on/faq_what.html http://www.ahdansw.asn.au/informati on/faq_what.html http://www.psicodiagnosis.es/areaclini ca/sindromesgeneticos/sindromecridu chatmaullidodegato/index.php http://www.psicodiagnosis.es/areaclini ca/sindromesgeneticos/sindromecridu chatmaullidodegato/index.php

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


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