Transcript genetic diseases/ hungtington disease and cat`s cry sindrome.

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 genebrain 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/origi
nal/Gas-Hep/Genetic-Diseases.html
• http://www.medicalnewstoday.com/ar
ticles/159552.php
• http://www.ahdansw.asn.au/informati
on/faq_what.html
• http://www.psicodiagnosis.es/areaclini
ca/sindromesgeneticos/sindromecridu
chatmaullidodegato/index.php
We hope you have
enjoyed!
• Created by:
Leyre Palomares de la Revilla
&
Belén García Pascual.