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genetic diseases - Coggle Diagram
genetic diseases
cystic fibrosis
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when both parents carry the faulty gene, there is a one in four chance that their child will be born with the disease
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in the past, life expectancy had been short but treatments have extended it
drugs to help control breathing, infections and special diet for food absorption
klinefelter syndrome
not easy to identify in small chilldren as the signs and symptoms are not always obvious. 1 in 600 boys born with this condition, often referred to as XXY.
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sign in babies include if the baby is slow in reaching milestones such as sitting, crawling and walking. may be born with undescended testicles
poor muscle power, delayed communication and a passive personality may also be signs. many boys with this condition also experience difficulty socialising and expressing their feelings - impact emotional development
may experience mild learning difficulties e.g. low attention span and difficulty with literacy skills. experiecne higher rates of dyslexia etc. low energy levels, extra growth spurts especially in legs and hips.
onset of puberty not usually effected, however testes dont increase in size and there may be a lack of testosterone leading to a flabby body, low muscle tone, small facial hair etc
huntingtons disease
during later stages, individual becomes increasingly dependent on other people for care and support
early signs are hard to notice and mistaken for other conditions e.g subtle changes in personality, mood swings, fidgeting etc. as time goes on and t he disease progresses, can include psychiatric problems, feeding and communication problems alongside erratic behaviour
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inherited neurodegenerative disorder that causes progressive damage to certain nerve cells in the brain
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downs syndrome
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can cause varying levels of learning disability, and effect physical features alongside associated medical issues
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most of the time its not inherited - simply a one off genetic 'mistake' in sperm or egg. higher chance of downs syndrome if mother is 45+ (about 1 in 50) whereas a 20 year olds risk is 1 in 1500
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according to nhs in 2004, people with this disability are more likely to experience depression, hearing and heart problems
brittle bone disease
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different variations of the disease, some more serious than others
often helped through physiotherapy, assistive equipment and drug treatments to help strengthen their bones
phenylketonuria (pku)
prevents a child from breaking down phenylalanine, (amino acid) found in milk, meat and eggs.
if they eat food containing phenylalanine there is a build up of harmful substances in the body that damages brain development,
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all babies in the uk are screened at birth using the heel prick test. if detected, treatment will start immediately with a special diet and medicine to prevent build up
if undetected, baby would fail to reach developmental milestones and be delayed as their brain became damaged. untreated can lead to sever learning disabilities and death
colour blindness
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true colour blindness is a very rare condition in which an individual has no colour perception at all - colour vision deficiency (individuals having difficulty in distinguishing between different colours) 2.7m in britain, 4.5% of population, mostly men