Genetics

Question 1

Genetic inheritance of duchenne muscular dystrophy?

Answer 1

x linked recessive

Question 2

Who does duchenne muscular dystrophy affect?

Answer 2

1/3000 males

Question 3

Time line for duchenne muscular dystrophy?

Answer 3

Onset weakness - 3-4 years old
Wheelchair - 10-12 years old
Death - 20s

Question 4

What is a feature of duchennes muscular dystrophy?

Answer 4

calf hypertrophy

Question 5

Pathology behind duchenne muscular dystrophy?

Answer 5

Dystrophin deficiency

Question 6

Diagnosis of duchenne muscular dystrophy?

Answer 6

Developmental delay
Muscle weakness - gowers sign and toe walking 
Increased CK
Electromyography
Muscle biopsy
Genetic testing for deletions

Question 7

Genetic inheritance of MS?

Answer 7

Multifactorial

Question 8

Is there any correlation between twins and MS?

Answer 8

Yes, 25% concordance in monozygotic twins

Question 9

Genetic inheritance of hunting tons disease?

Answer 9

Autosomal dominant

Question 10

When is the onset of huntingtons disease?

Answer 10

30-50years

Question 11

Features of huntingtons disease?

Answer 11

Involuntary movements
Dementia
Severe dependency

Question 12

Prognosis of huntingtons disease?

Answer 12

Death after 15-20 years

Question 13

When does Alzheimer’s disease tend to preset ?

Answer 13

Old age

Question 14

Genetic inheritance of Alzheimer’s?

Answer 14

Genetic heretogenicity

Question 15

Pathology of Alzheimer’s disease?

Answer 15

Loss of cortical neurones
Neruofibrillary tangles
Sensible plaques