GENETIC DISEASES

BY: ANTONICE MORIN

LUNG/MOUTH CANCER
Mode of Inheritance: Genetic Predisposition/Environmental Influence
A cancer that begins in the lungs and most often occurs in people
who smoke. Symptoms of Lung Cancer:-cough (often with blood,
-chest pain,-wheezing,-weight loss

Cancer that develops in any part of the mouth. Symptoms of

Mouth Cancer:-a sore that doesn't heal, -a lump,-a white or red
patch on the inside of the mouth
Prognosis for Lung Cancer: Stage four of lung cancer is the most
advanced and most people do not live through this stage. If people find
lung cancer early enough, they can get it surgically removed.

Prognosis for Mouth Cancer: For stages 1-3, the survival rate is 93%.
Stages 4-5 have a survival rate of 48%.

TREATMENT
Treatment for Lung Cancer may
include surgery, chemotherapy,
radiation, or a combination of
these.

Treatment for Mouth Cancer:

This includes surgery,
radiation therapy, and
sometimes chemotherapy.

Skin Cancer
Mode of Inheritance: Genetic Predisposition/Environmental Influence

The abnormal growth of skin cells. Symptoms of Skin Cancer:growth or lump in the skin
Prognosis for Skin Cancer: The five year survival rate ranges from
15-20% and the 10 year survival rate is 10-15%. If the cancer is only on
distant parts of the skin, it is normal and can be removed.

Treatment for Skin Cancer: Treatment varies with it and includes

surgery and chemotherapy and radiation.

Skin Cancer
-Each year in the US over 5.4 million cases of non melanoma
skin cancer are treated in more than 3.3 million people.
-1 in 5 americans will develop skin cancer in the course of a lifetime.

TYPE 1 DIABETES
-Mode of Inheritance: Genetic Predisposition/ Environmental Factor
A chronic condition in which the pancreas produces little or no
insulin. Symptoms include: increased thirst, frequent urination,
hunger, fatigue, and blurred vision
Prognosis: It is a lifelong disease that has no cure. Tight control
of blood glucose levels can prevent or delay diabetes
complications. Problems can still occur.

Treatment: Maintaining normal blood sugar levels through

regular monitoring, insulin therapy, diet, and exercise.

TYPE 1 DIABETES
-Exercise is an important part of keeping diabetes under control.
-Type 1 Diabetes can also be called insulin-dependent diabetes because
people with type 1 must take insulin in order to live.

Type 2 Diabetes
Mode of Inheritance: Genetic Predisposition/ Environmental Influence
A chronic condition that affects the way the body processes blood sugar.
Symptoms include: increased thirst, frequent urination, hunger, fatigue, and
blurred visions. Sometimes, there may be no symptoms
Prognosis: It is a lifelong disease. Some people with type 2 diabetes no longer
need medicine. When they reach their ideal weight their own bodys insulin
and healthy diet can control their blood sugar level.

Treatment: There is no cure. It includes diet, exercise, and insulin therapy.

Type 2 Diabetes
-Some people with type 2 diabetes dont produce enough insulin.
-Many people are overweight when theyre diagnosed with Type 2 Diabetes.
You dont have to be overweight to develop it though.

PKU (PHENYLKETONURIA)
Mode of Inheritance: Autosomal Recessive
It is a birth defect that causes an amino acid called
phenylketonuria to build up in the body. Symptoms include: brain
damage, mental retardation, behavioral symptoms, or seizures.
Prognosis: If treatment is delayed, brain damage will occur.
If phenylketonuria is not avoided, it can lead to mental
disability by the end of the first year of life.

Treatment: It includes a strict diet with limited protein.

PKU (PHENYLKETONURIA)
-1 in about 15,000 babies are born with PKU, which means it is rare.
-The primary diagnostic test for PKU is the measurement of
phenylalanine levels in a drop of blood taken from the heel of a newborn
baby's foot.

Heart Disease
Mode of Inheritance: Genetic Predisposition/ Environmental Influence
Heart conditions that include diseased vessels, structural problems, and
blood clots. Symptoms include: chest pain, shortness of breath, pain,
numbness, weakness, etc.
Prognosis: Only about 20% of women diagnosed with heart disease
survive longer than 8-12 years. Eighty percent of men and 70% of
women under the age of 65 diagnosed with heart disease die within 8
years.
Treatment: Treatments vary widely and can include lifestyle
changes, medications, surgery, stents, pacemakers, and ablation.

Heart Disease
-Every year about about 735,000 Americans have a heart attack.
-About 47% of sudden cardiac arrests occur outside a hospital.

CYSTIC FIBROSIS
Mode of Inheritance: Autosomal Recessive
Cystic Fibrosis is an inherited life-threatening disorder that damages
the lungs and digestive system. Symptoms include: cough, repeated
lung infections, inability to gain weight, and fatty stools.
Prognosis: The average life span for people with Cystic
Fibrosis who live to adulthood die around the age of 37.
Death is most likely caused by lung complications.
Treatment: Preventing and controlling lung infection, loosening and
removing mucus from the lungs, preventing and treating intestinal
blockage, and providing adequate nutrition.

CYSTIC FIBROSIS
-Babies are born with the disease. CF is an inherited genetic condition,
and both parents have to carry the gene.
-Improved medication and treatments have seen life expectancy extend
considerably.

Severe Combined
Immunodeficiency Disease
Mode of Inheritance: Sex linked Recessive
A rare inherited condition resulting in a weak immune
system that is unable to fight off even mild infections.
Symptoms include: hearing loss, infections, neurological
problems, multiple skeletal abnormalities.
Prognosis: Without treatment, it can cause death in the first two years
of life. It should be caught early to prevent even more infections.
Treatment: The most effective treatment is bone marrow
transplant and medications for infections.

Severe Combined
Immunodeficiency Disease
-It most occurs in males on the X chromosome.
-Children with SCID usually receive medical attention at a young age
(often within the first year of life) because of infections.

HEMOPHILIA
Mode of Inheritance: Sex-linked Recessive
A disorder in which blood does not clot normally. Symptoms
include: many large or deep bruises, joint pain and swelling,
unexplained bleeding, and blood in urine or stool.
Prognosis: With correct treatment, people diagnosed with Hemophilia
will look into a normal life-span. The three main complications that
develop in people with Hemophilia are joint destruction, blood-borne
infection, and development of inhibitor antibodies.

Treatment: Treatment includes injections of a clotting factor or plasmid.

HEMOPHILIA
-The worldwide incidence of hemophilia is not well known, but estimated
at more than 400,000 people.
-Nearly 90% of Americans with severe hemophilia became infected with
AIDS in the 1980s when blood and plasma donations in the US were not
properly screened for HIV.

Huntingtons Disease
Mode of Inheritance: Autosomal Dominant
An inherited condition in which nerve cells in the brain break
down over time. Symptoms include: progressive movement,
thinking, and psychiatric symptoms.
Prognosis: Huntington's disease usually runs its full terminal
course in 10 to 30 years. It has been observed that the earlier in
life the symptoms of HD appear, the faster the disease progresses.
The bedridden patient in the final stages of Huntington's disease
often dies from complications such as heart failure or pneumonia.
Treatment: No cure exists, but drugs, physical therapy, and talk
therapy can help manage some symptoms.

Huntingtons Disease
-Huntingtons disease occurs in about one in 15,000 people across the globe.
-In 90 per cent of cases the disease symptoms appear between the ages of
30 and 50.

SICKLE CELL ANEMIA

Mode of Inheritance: Autosomal Recessive
A group of disorders that cause red blood cells to become
misshapen and break down. Symptoms include: infections, pain,
and fatigue.
Prognosis: New and aggressive treatments for sickle cell disease are
prolonging life and improving its quality. As recently as 1973, the
average lifespan for people with sickle cell disease was only 14 years.
Currently, life expectancy for these patients can reach 50 years and over.
Treatment: Treatments include medications, blood transfusions, and
rarely a bone-marrow transplant.

SICKLE CELL ANEMIA

-SCD is a genetic condition that is present at birth. It is inherited when a
child receives two sickle cell genesone from each parent.
-People with SCD start to have signs of the disease during the first year
of life, usually around 5 months of age.

Down Syndrome
Mode of Inheritance: Chromosome Number Disorder
A genetic chromosome 21 disorder causing developmental and
intellectual delays. Symptoms include: distinct facial appearance,
intellectual disability, development delays, and may be associated
with thyroid or heart disease.
Prognosis: Back then, a person with Down Syndrome would only live
up to 8 years. Present time, a person with down syndrome can live up to
50 years or more.
Treatment: Early intervention programs with a team of therapists
and special educators who can treat each child's specific situation
are helpful in managing Down syndrome.

Down Syndrome
-Down syndrome is the most commonly occurring chromosomal condition.
One in every 691 babies in the United States is born with Down syndrome
about 6,000 each year.
-Down syndrome occurs in people of all races and economic levels.

KLINEFELTERS SYNDROME
Mode of Inheritance: Chromosome Number Disorder
A genetic condition in which a male is born with an extra copy of the
X chromosome. Symptoms include: low testosterone and reduced
muscle mass, facial hair, and body hair. Most males produce little to
no sperm.
Prognosis: A doctor familiar with their patient would know how long
their survival rate would be. Even then, some doctors arent sure.
Some males might develop: autoimmune diseases, obesity, male
breast cancer, lupus, obesity, etc.
Treatment: Treatment may include testosterone replacement and
fertility treatment.

KLINEFELTERS SYNDROME
- The syndrome was first identified and described in 1942 by Harry Fitch
Klinefelter, Jr., an American physician.
-About 1 in every 500 to 800 males are born with this disorder;
approximately 3000 affected boys are born each year in the United
States.