Genetic Predispositions to Particular conditions Flashcards
What is cystic fibrosis?
Cystic fibrosis
Caused by a faulty, recessive gene which must be carried by two parents , there’s a 1 in 4 chance of a person developing cystic fibrosis if parents have it.
Cystic fibrosis results in defective protein being produced that causes lungs to be clogged with thick, sticky, mucus. People with cystic fibrosis may have problems absorbing nourishment from food and may suffer from respiratory and chest infections.
What may help with cystic fibrosis?
Physiotherapy helps people with cystic fibrosis to clear mucus from lungs, various drugs help control breathing and throat/lung infections, special diet and drugs help with food absorption.
What is brittle bone disease?
May be passed from parents but can also develop from genetic mutation. Children born with brittle bone disease are at a high risk of fracturing or breaking their bones, because they don’t develop with the right amount or type of protein (collagen)
There are different types of the disease, they can be helped through physiotherapy, assistive equipment, and drug treatments to help strengthen their bones.
What is PKU?
Phenylketonuria (PKU)
PKU is a rare genetic disorder that prevents child from breaking down phenylalanine, amino acid that is found in food such as milk, meet and eggs.
In PKU there’s a build up of harmful substances in the body that damages brain development. The condition cannot be cured. All babies in the UK are screened at birth by heel-prick blood test. If a high phenylalanine level is detected, treatment will be started immediately using diet and medication to prevent build-up of harmful substances.
A baby born with untreated PKU will experience developmental delay as their brain becomes damaged, may result in unresolved learning disability and child death.
What is Klinefelter Syndrome?
KlineFelter Syndrome
1 in 600 boys will be born with this condition.
Some signs include that the baby is slow in reaching milestones such as sitting up, crawling, walking. Baby may be born with undescended testicles. Poor muscle power, delayed communication , passive personality may be signs.
Many boys with this condition have trouble socialising and expressing their feelings which impacts on emotional development and leads to low self-confidence.
Some boys with this condition experience mild learning difficulties such as low attention span and difficulty with literary skills (reading, writing, spelling) they experience higher levels of dyslexia and dyspraxia.
Other physical signs include low energy levels and extra growth spurts in legs and widening of the hips. Testes do not increase in size and there may be lack of testosterone leading to flabby body, low muscle ton, reduction in calcium in the bones, lack of body or facial hair. May be difficulties with libido and fertility.
What is Down’s syndrome?
Down’s syndrome is a genetic condition that occurs because of an extra chromosome. The condition can cause varying levels of learning disability, the characteristic physical features and associated medical issues. Each year, approximately 750 babies born in the UK will have down’s syndrome and recent research estimates that 60,000 people in the UK have this condition.
In most cases. Down’s syndrome isn’t inherited, it’s simply the result of one-off genetic mistake in the sperm or egg. There is a higher risk of giving birth to baby with Down’s syndrome for women 45 years and older ( 1 in 50), in comparison, a 20-year-old-woman has a risk of one in 1,500.
The life expectancy of people who have Down’s syndrome is generally between 50 and 60 years but with improvements in health care, a small people with the condition live into their 70’s.
What is colour blindness?
True colour blindness is a very rare condition in which an individual has no colour perception at all. Colour vision deficiency, where individuals have difficulty in distinguishing colours is commonly known as colour blindness. Condition can vary in severity.
Condition is genetic for majority of people, inherited colour vision deficiency is result of abnormality in the retina. Others will experience the condition because of other diseases such as diabetes and multiple sclerosis. Ageing process or medication side effects can affect colour recognition.
Condition doesn’t lead to long-term health problems. It is important that health and social care providers take colour blindness into consideration using colour schemes for info.
What is Duchenne Muscular Dystrophy?
Muscular dystrophies are a group of inherited genetic conditions that gradually weaken muscles leading to disability. Progressive condition that worsens over time. Caused by change in genes responsible for structure and function of a person’s muscles. Causes changes in muscle fibres which interfere with ability to function.
Most common and severe form of muscular dystrophy is Duchenne muscular dystrophy, inherited from female gene and passed only to male offspring.
Caused by genetic mutation on X chromosome, which prevents body from producing a vital muscle protein, dystrophin which is essential for building and repairing muscles. Muscular weakness is not noticeable at birth but becomes more noticeable in early childhood and more prominent as child grows older.
The condition is usually diagnosed by age 5 and by, the time an individual is 12, they may have to use a wheelchair. It is a serious condition with muscle weakness, mainly in muscles near the trunk of the body around the hips and shoulders.
This means that fine motor skills using hands and fingers are less affected than gross motor skills. Many young men with DMD face severe health problems, especially by their late teens, as muscles of heart and lungs weaken.
Although the condition is severely disabling, many young men with Duchenne muscular dystrophy and are able to lead active lives. Survival beyond the age of 30 was rare, but research and medical advances are increasing this and life expectancy is beginning to improve. The right specialist health and social care can make a difference to length and quality of life.
