Neurogenetics* Flashcards
1
Q
DMD is what linked
huntingtons
Alzhemiers
Ms
A
X linked
AD
genetic heterogeneity/MF
GH/MF
2
Q
DMD is what
3-4 years
10-12 years
20 years
A
delay in motor development
onset of weakness
wheelchair bound
death from involvement of resp and cardiac muscles in 20s
3
Q
diagnosis of DMD
A
muscle weakness - gowsers sign raised CK EMG muscle biopsy genetic testing
4
Q
huntingtons is what
onset
3 features
why
A
progressive neurodegenerative disorder
onset between 30-50s
involuntary movements
dementia
progression to severe dependancy and death over 15-20 years
atrophy of the basal ganglia
5
Q
early clinical signs of huntingtons
A
clumsiness agitation irritability apathy anxiety disinhibition delusions hallucinations abnormal eye movements depression
6
Q
later clinical signs in huntingotns
A
dystonia involuntary movements trouble with walking and balance slow voluntary movements difficult initiating movements inability to control speed and force of movement weight loss speech difficulties stubbornness
7
Q
later clinical signs
A
rigidity bradkykinesia severe chorea wt loss inability to walk, speak, take care for oneself swallowing problems
8
Q
pathology of alzheimers
A
loss of cortisol neurones
neurofibrillary tangles
senile plaques
