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.