predisposition to adult onset disease

Question 1

How does amyotrophic lateral sclerosis present

Answer 1

(Type of motor neuron disease)

• Progressive muscle weakness, wasting and increased reflexes (upper and lower neuron signs)
• limb and bulbar muscles involved
• pure motor signs with fasciculations
• Cognition spared
• Death due to respiratory failure

Question 2

What gene is affected in amyotropphic lateral sclerosis

Answer 2

Cu/Zn Superoxide dismutase

Question 3

What is the function of SOD

Answer 3

Protects many cell types from free radical damage which is important in ageing and ischaemic tissue damage

SOD protects cells from DNA damage and other forms of progressive cell degradation

Question 4

What are the movement associated clinical features of huntingtons disease

Answer 4

• Chorea - involuntary, rapid, irregular and unpredictable movements
• athetosis - slow twisting commonly of the hands
• myoclonus - sudden jerk motion like twitches
• rigidity - increased muscle tone causing stiffness

Question 5

What are the non movement clinical features of huntingtons

Answer 5

• poor planning and memory
• Subcortical dementia - more movement disorder compared to usual dementia
• irritable
• apathetic
• loss of empathy
• disinhibition
• self centred
• depression and psychosis

Question 6

What age does symptoms of huntingtons present

Answer 6

30-40s