Genetics - Adult Onset Disease and Genetics Flashcards
1
Q
Why refer to genetics
A
- Diagnosis
- Predictive testing
- Carrier and cascade screening
- Family history
- Foetal loss and recurrent miscarriages
2
Q
Causes of adult onset genetic disease
A
- Single gene mutations
- Chromosomal abnormalities
- Mitochondrial disease
- Multifactorial disease
3
Q
Define penetrance
A
- Proportion of individual carrying a particular variant or gene and express a particular phenotype
4
Q
Genetics of Amyotropic lateral sclerosis
A
- Sporadic
- Mean age of onset 55
- 5-10\5 familial
5
Q
Clinical features of ALS
A
- Progressive muscle weakness, wasting and increased reflexes (upper and lower neurone signs
- Pure motor signs (fasciculation)
- Cognitive spared
- Death from respiratory failure
6
Q
SOD
A
- superoxide dimutase
- Protects cells from free radial damage
- Important in ageing and ischaemic tissue damage
- Protects from DNA damage, lipid peroxidation, ionising radiation and protein denaturation
7
Q
To test or not to test
A
- Inheritance and risks
- Implications of test results
- Variability of condition
- Insurance
- Employment
- Future children
8
Q
Genetics of Huntington’s Disease
A
- Autosomal Dominant
- Adult onset
- Mutation of CAG expansion
9
Q
Clinical features of Huntington’s disease
A
- Chorea
- Athetosis (Abnormal muscle contractions causing writhing movements)
- Myoclonus
- Rigidity
