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Flashcards in Genetics Deck (15)
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1
Q

What is myotonic dystrophy

A

AD multisystem progressive disease with impaired muscle relaxation and muscle wasting

2
Q

What is spinal muscular atrophy

A

Autosomal recessive
progressive loss of anterior horn cells in spinal cord and brainstem nuclei
SMN1 deficiency

3
Q

Features of SMA

A
Floppy
Hypotonia 
areflexia 
muscle wasting 
tongue fasciculations
4
Q

inheritance of Huntington’s disease

A

autosomal dominant

5
Q

cause of Huntington’s disease

A

trinucleotide CAG repeat resulting in polyglutamine and caudate nucleus atrophy

6
Q

what is the inheritance of Duchenne muscular dystrophy

A

X linked recessive - males affected

7
Q

how does Duchenne muscular dystrophy present

A
motor developmental delay 
Gowers sign positive 
Calf pseudohyptertropy 
excessive lumbar lordosis 
wheelchair bound in teens 
death in 20s from cardiorespiratory muscle dysfunction and failure
8
Q

where is the mutation in Duchenne muscular dystrophy

A

dystrophin gene in X chromosome

9
Q

what investigations are used for Duchenne muscular dystrophy

A

EMG
muscle biopsy
CK
genetic testing

10
Q

what are levels of CK like in Duchenne muscular dystrophy

A

very high

11
Q

what is the pathology in Huntingtons disease

A

trinucleotide repeat of CAG leading to polyglutamine and atrophy in caudate nucleus of basal ganglia

12
Q

when do symptoms in Huntingtons disease present

A

30-50s generally but can be variable due to age dependent penetrance

13
Q

what is genetic anticipation in Huntingtons disease

A

with each generation, symptom onset is earlier and worse

14
Q

how do you diagnose Huntingtons disease

A

PCR

15
Q

What are genetic causes that predispose to Alzheimers disease

A

Trisomy 21 - Downs
presenelin 1/2 mutations
ApoE4
APP mutations