Human Genetics Disorders:
Downs syndrome:
What is it: - down syndrome is when you’re born with an extra chromosome. You usually get an extra
chromosome by chance, because of a change in the sperm or egg before you were born.
Causes: - an extra chromosome due to a change in the sperm or egg before an individual is born
Symptoms: - a flattened face, almond-shaped eyes that slant up, a short neck, small ears, a tongue that tends to
stick out of the mouth, and small hands and feet.
Treatment: - treatments to improve skills include, speech, physical, occupational, and educational therapy. There
are no cures for down syndrome.
Diagnosis: - Amniocentesis (most common to diagnose down syndrome), Chorionic villus sampling (CVS), and
ultrasound
Huntington’s disease:
What is it: - a condition that stops part of the brain working properly over time. Inherited from an individual’s
parents. Symptoms start between 30-50 years.
Causes: - caused by a faulty gene, you’re usually only at risk of developing it if one of your parents has or had it.
very rarely, you may develop Huntington’s disease without having a history of it within your family.
Symptoms: difficulty concentrating, memory lapses, depression, stumbling, clumsiness, mood swings. Later
problems are involuntary movements, swallowing problems
Treatment: - there is no cure or no way of stopping the disease from worsening. Treatments to reduce them can
be, medicines for depression, mood swings, and involuntary movements, occupational therapy, speech and
language therapy, and physiotherapy.
Diagnosis: - a blood test to confirm that you have the gene can confirm if you have the condition
Phenylketonuria:
What is it: - it is a condition where an individual cannot break down the amino acid phenylalanine, which builds up
in their blood and brain, this may lead to brain damage.
Causes: - inherited from the parents.
Symptoms: - behavioural difficulties, fairer skin, hair and eyes, eczema, repeatably being sick, jerking movements,
tremors, epilepsy, and a musty smell to the breath, skin, and urine.
Treatment: change in diet, avoid products that contain aspartame, and regular blood tests
Diagnosis: - babies are offered a new-born blood spot screening, where they will test for PKU and other conditions
Sickle cell disease:
What is it: - sickle cell disease means that individuals produce unusually shaped red blood cells, that can cause
problems because they do not live as long as healthy blood cells and can block blood vessels
Causes: - a gene that is carried by both parents
Symptoms: - painful episodes (sickle cell crises), increased risk of serious infections, anaemia, delayed growth,
strokes, and lung problems
Treatment: - the only cure is stem cell or bone marrow transplant. Other treatments include, drinking plenty of
fluids, daily antibiotics, regular vaccinations, painkillers, hydroxycarbamide, regular blood transfusions, and
emergency blood transfusion is anaemia develops.
Diagnosis: - new-born blood spot test
Cystic fibrosis:
What is it: - an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This
causes lung infections and problems with disgusting food. Life expectancy is shortened
Causes: - faulty gene inherited from both parents
Symptoms: - recurring chest infections, wheezing, coughing, shortness of breath, difficulty putting on weight and
growing, diarrhoea, constipations, and a bowel obstruction in new-born babies
Treatment: - no cure, medicines to treat and prevent lung problems, physical activities, and use of airway
clearance techniques.
Diagnosis: - new-born screening heel prick test, a sweat test, and a genetic test.
, Homeostatic disorders:
Hypothermia:
What is it: - having a dangerously low body temperature
Causes: - happens when you get too cold and your body temp drops below 35c. you can get it by not wearing
enough clothes in cold weather, stay in the cold too long, fall into cold water, have wet clothes, and get cold,
and live in a cold house.
Symptoms: - shivering, cold skin, slurred speech, and confusion
Treatment: - heart rate will be monitored, oxygen to help breathing, warm fluids into a vein, and possibly
treatment in intensive care
Diagnosis: - physical signs and the environment an individual was found in, and a blood test can confirm the
severity
Hyperthermia:
What is it: - a dangerously high body temperature
Causes: - the bodies inability to regulate its own temperature in high environmental heat.
Symptoms: - heavy sweating, cold, pale, and clammy skin, fast, weak pulse, nausea, vomiting, muscle cramps,
tiredness, weakness, dizziness, general weakness, and a headache
Treatment: - total body cooling and removing any excess clothing
Diagnosis: - core body temperature measurement
Fever:
What is it: - a temperature that is 38C or above
Causes: - body may be fighting off an infection
Symptoms: - chest or back feeling hotter than usual, shivering, sweating or warm, red skins, and a temp above 38C
Treatment: - lots if rest, plenty of fluids, and take paracetamol and ibuprofen.
Diagnosis: - checking your temperature using a thermometer
Dehydration:
What is it: -
Causes: - not drinking enough fluid. More common with diabetes, vomiting, diarrhoea, heatstroke, too much
alcohol, excess sweating, high temp, and specific medications
Symptoms: - feeling thirsty, dark yellow and strong-smelling urine, dizziness, light-headed, dry mouth.
Treatment: - drinking fluids when you feel dehydration symptoms, drinking when you are more at risk, and
drinking enough so that your urine is a pale clear colour
Diagnosis: - urinalysis
Cardiovascular disorders:
Coronary heart disease:
What is it: - the hearts blood supply is blocked or interrupted by a build-up of fatty substances in the coronary
arteries
Causes: - over time, the walls of your arteries can become furred up with fatty deposits (this process is
atherosclerosis), the fatty deposits are called atheroma. Atherosclerosis is caused by smoking, lots of alcohol,
high cholesterol, high blood pressure, and diabetes.
Symptoms: - chest pain (angina), shortness of breath, pain throughout the body, feeling faint, and feeling sick.
Treatment: - no cure. Lifestyle changes, regular exercise, medicines, angioplasty, and surgery
Diagnosis: - blood tests, treadmill test, radionuclide scan, CT scan, MRI, and coronary angiography
Stroke:
What is it: - a life-threatening medical condition that happens when the blood supply to part of the brain is cut off
Causes: - aS
Downs syndrome:
What is it: - down syndrome is when you’re born with an extra chromosome. You usually get an extra
chromosome by chance, because of a change in the sperm or egg before you were born.
Causes: - an extra chromosome due to a change in the sperm or egg before an individual is born
Symptoms: - a flattened face, almond-shaped eyes that slant up, a short neck, small ears, a tongue that tends to
stick out of the mouth, and small hands and feet.
Treatment: - treatments to improve skills include, speech, physical, occupational, and educational therapy. There
are no cures for down syndrome.
Diagnosis: - Amniocentesis (most common to diagnose down syndrome), Chorionic villus sampling (CVS), and
ultrasound
Huntington’s disease:
What is it: - a condition that stops part of the brain working properly over time. Inherited from an individual’s
parents. Symptoms start between 30-50 years.
Causes: - caused by a faulty gene, you’re usually only at risk of developing it if one of your parents has or had it.
very rarely, you may develop Huntington’s disease without having a history of it within your family.
Symptoms: difficulty concentrating, memory lapses, depression, stumbling, clumsiness, mood swings. Later
problems are involuntary movements, swallowing problems
Treatment: - there is no cure or no way of stopping the disease from worsening. Treatments to reduce them can
be, medicines for depression, mood swings, and involuntary movements, occupational therapy, speech and
language therapy, and physiotherapy.
Diagnosis: - a blood test to confirm that you have the gene can confirm if you have the condition
Phenylketonuria:
What is it: - it is a condition where an individual cannot break down the amino acid phenylalanine, which builds up
in their blood and brain, this may lead to brain damage.
Causes: - inherited from the parents.
Symptoms: - behavioural difficulties, fairer skin, hair and eyes, eczema, repeatably being sick, jerking movements,
tremors, epilepsy, and a musty smell to the breath, skin, and urine.
Treatment: change in diet, avoid products that contain aspartame, and regular blood tests
Diagnosis: - babies are offered a new-born blood spot screening, where they will test for PKU and other conditions
Sickle cell disease:
What is it: - sickle cell disease means that individuals produce unusually shaped red blood cells, that can cause
problems because they do not live as long as healthy blood cells and can block blood vessels
Causes: - a gene that is carried by both parents
Symptoms: - painful episodes (sickle cell crises), increased risk of serious infections, anaemia, delayed growth,
strokes, and lung problems
Treatment: - the only cure is stem cell or bone marrow transplant. Other treatments include, drinking plenty of
fluids, daily antibiotics, regular vaccinations, painkillers, hydroxycarbamide, regular blood transfusions, and
emergency blood transfusion is anaemia develops.
Diagnosis: - new-born blood spot test
Cystic fibrosis:
What is it: - an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This
causes lung infections and problems with disgusting food. Life expectancy is shortened
Causes: - faulty gene inherited from both parents
Symptoms: - recurring chest infections, wheezing, coughing, shortness of breath, difficulty putting on weight and
growing, diarrhoea, constipations, and a bowel obstruction in new-born babies
Treatment: - no cure, medicines to treat and prevent lung problems, physical activities, and use of airway
clearance techniques.
Diagnosis: - new-born screening heel prick test, a sweat test, and a genetic test.
, Homeostatic disorders:
Hypothermia:
What is it: - having a dangerously low body temperature
Causes: - happens when you get too cold and your body temp drops below 35c. you can get it by not wearing
enough clothes in cold weather, stay in the cold too long, fall into cold water, have wet clothes, and get cold,
and live in a cold house.
Symptoms: - shivering, cold skin, slurred speech, and confusion
Treatment: - heart rate will be monitored, oxygen to help breathing, warm fluids into a vein, and possibly
treatment in intensive care
Diagnosis: - physical signs and the environment an individual was found in, and a blood test can confirm the
severity
Hyperthermia:
What is it: - a dangerously high body temperature
Causes: - the bodies inability to regulate its own temperature in high environmental heat.
Symptoms: - heavy sweating, cold, pale, and clammy skin, fast, weak pulse, nausea, vomiting, muscle cramps,
tiredness, weakness, dizziness, general weakness, and a headache
Treatment: - total body cooling and removing any excess clothing
Diagnosis: - core body temperature measurement
Fever:
What is it: - a temperature that is 38C or above
Causes: - body may be fighting off an infection
Symptoms: - chest or back feeling hotter than usual, shivering, sweating or warm, red skins, and a temp above 38C
Treatment: - lots if rest, plenty of fluids, and take paracetamol and ibuprofen.
Diagnosis: - checking your temperature using a thermometer
Dehydration:
What is it: -
Causes: - not drinking enough fluid. More common with diabetes, vomiting, diarrhoea, heatstroke, too much
alcohol, excess sweating, high temp, and specific medications
Symptoms: - feeling thirsty, dark yellow and strong-smelling urine, dizziness, light-headed, dry mouth.
Treatment: - drinking fluids when you feel dehydration symptoms, drinking when you are more at risk, and
drinking enough so that your urine is a pale clear colour
Diagnosis: - urinalysis
Cardiovascular disorders:
Coronary heart disease:
What is it: - the hearts blood supply is blocked or interrupted by a build-up of fatty substances in the coronary
arteries
Causes: - over time, the walls of your arteries can become furred up with fatty deposits (this process is
atherosclerosis), the fatty deposits are called atheroma. Atherosclerosis is caused by smoking, lots of alcohol,
high cholesterol, high blood pressure, and diabetes.
Symptoms: - chest pain (angina), shortness of breath, pain throughout the body, feeling faint, and feeling sick.
Treatment: - no cure. Lifestyle changes, regular exercise, medicines, angioplasty, and surgery
Diagnosis: - blood tests, treadmill test, radionuclide scan, CT scan, MRI, and coronary angiography
Stroke:
What is it: - a life-threatening medical condition that happens when the blood supply to part of the brain is cut off
Causes: - aS
