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GENETIC DISEASES:
HUNGTINGTON DISEASE ANDCRI 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
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
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.
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.
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.
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.
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.
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.
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
We hope you have enjoyed!
• Created by:
Leyre Palomares de la Revilla &
Belén García Pascual.