CNS genetics Flashcards
1
Q
what is this?
X linked delay in motor development calf hypertophy deficiency in dystrophin Gowers sign toe walking raised CK
A
Duchenne muscular dystrophy
2
Q
gold standard investigation for Duchenne’s?
A
muscle biopsy
3
Q
what is this>
autosomal dominant? clumsy agitation apathy anxiety involunatry movements can end up with dementia dystonia
speech problems
end not not being able to walk or eat
A
huntingsons
4
Q
loss of myelin sheath
A
multiple sclerosis
5
Q
loss of cortical neurones
neurofibrillary tangles
senile plaques (amyloid depositis)
A
Alzheimers
