Genetics

Question 1

What are the genetics of duchennes muscular dystrophy?

Answer 1

x linked recessive

deletion of dystrophin gene

Question 2

What is the presentation of duhcennes muscular dystrophy?

Answer 2

onset of weakness around 3-4years
muscle weakness - gowers sign positive
raised CK

Question 3

What is the prognosis for duchennes muscular dystrophy?

Answer 3

wheelchair bound by 10-12 years

Question 4

What are the genetics of huntingtons disease?

Answer 4

autosomal dominant
mutated Huntingtin gene - CAG42 instead of CAG20
CAG codes for glutamine

Question 5

What is the presentation of huntingtons disease?

Answer 5

onset 30-50years
progressive neurodegenerative disorder leading to:
rigitidy
bradykinesia
anxiety and depression
severe chorea
weight loss

Question 6

What is the prognosis for huntingtons?

Answer 6

severe dependancy and death over 15-20 years

Question 7

What can be seen in the brain for huntingtons?

Answer 7

caudate atrophy

Question 8

What are the genetics of spinal muscular atrophy?

Answer 8

autosomal recessive

progressive loss of anterior horn cells in the spinal cord and brain nuclei due to a SMN1 deficiency

Question 9

How does spinal muscular atrophy present?

Answer 9

hypotonia
proximal muscle weakness
tongue fasiculations