Genetic Disorders Flashcards
What is Brittle bone disease?
A disease where children are born with a high risk of fracturing or breaking their bones easily because their bones develop without the right amount or type of protein called collagen.
What are the factors that can cause Brittle bone disease?
It can be passed from a parent but it can also develop from a genetic mutation.
What are the treatments for Brittle bone disease?
Physiotherapy, assistive equipment, and drug treatments to help strengthen the bones.
What is Cystic fibrosis?
Cystic fibrosis is the result of a faulty gene being developed which causes the lungs to be clogged with sticky mucus.
What are the factors that can cause Cystic fibrosis?
The gene is recessive which means both parents must be carriers for the child to develop cystic fibrosis.
What are the treatments for Cystic fibrosis?
Physiotherapy and various drugs.
What is Phenylketonuria?
Phenylketonuria is a rare genetic disorder that prevents a child from breaking down phenylalanine which is an amino acid.
What are the treatments for Phenylketonuria?
special diet and medication to ensure no buildup of phenylalanine however there is no cure.
What is Huntington’s disease?
Huntington’s disease is a genetic disorder that can develop at any age (usually between 35 and 55) which can cause progressive damage to certain nerve cells in the brain.
What are the factors that can cause Huntington’s disease?
It is inherited from your parents.
What are the treatments for Huntington’s disease?
Psychiatric help.
What is Klinefelter syndrome?
A rare genetic disorder that causes children to reach milestones at a later date.
What are the factors that can cause Klinefelter syndrome?
It is a rare genetic disorder.
What are the treatments for Klinefelter syndrome?
Help in writing, learning and spelling.
