Neurogenetics

Question 1

X linked

Answer 1

Duchenne muscular dystrophy

Question 2

Autosomal dominant

Answer 2

Huntingtons

Question 3

Genetic heterogeneity/ multifactorial

Answer 3

MS, Alzheimers

Question 4

What does X linked mean

Answer 4

Only affects males

Question 5

Duchenne muscular dystrophy- onset of weakness

Answer 5

3-4 yrs, wheelchair bound by 12

Question 6

How do people die with muscular dystrophy

Answer 6

Resp and cardio muscle involvement by 20s

Question 7

Gene responsible Duchenne

Answer 7

Dystrophin deficiency

Question 8

Diagnosis of duchennes

Answer 8

developmental delay, muscle weakness, serum CK, muscle biopsy, molecular genetic testing, EMG

Question 9

Clinical signs Duchenne

Answer 9

Gowers sign, high toe walking

Question 10

Huntingtons disease gene involved

Answer 10

CAG- glutamine

Question 11

Huntingtons incidence and onset

Answer 11

1/20,000 onset 30-50s

Question 12

What is Huntington’s characterised by

Answer 12

Involuntary movements, dementia, progression to severe dependency and death over 15=20yrs

Question 13

Early signs huntingtons

Answer 13

clumsiness, agitation, delusions, anxiety, depression

Question 14

Later clinical signs huntingtons

Answer 14

dystonia, involuntary movements, balance probs, weight loss

Question 15

Even later clinical signs huntingtons

Answer 15

rigidity/bradykinesia, inability to walk and speak, serious weight loss