GENETIC DISEASES: HUNGTINGTON DISEASE AND CRI DU CHAT SYNDROME.

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Presentation transcript:

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

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.

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