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Flashcards in Genetics Deck (15):
1

What is myotonic dystrophy

AD multisystem progressive disease with impaired muscle relaxation and muscle wasting

2

What is spinal muscular atrophy

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

3

Features of SMA

Floppy
Hypotonia
areflexia
muscle wasting
tongue fasciculations

4

inheritance of Huntington's disease

autosomal dominant

5

cause of Huntington's disease

trinucleotide CAG repeat resulting in polyglutamine and caudate nucleus atrophy

6

what is the inheritance of Duchenne muscular dystrophy

X linked recessive - males affected

7

how does Duchenne muscular dystrophy present

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

where is the mutation in Duchenne muscular dystrophy

dystrophin gene in X chromosome

9

what investigations are used for Duchenne muscular dystrophy

EMG
muscle biopsy
CK
genetic testing

10

what are levels of CK like in Duchenne muscular dystrophy

very high

11

what is the pathology in Huntingtons disease

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

12

when do symptoms in Huntingtons disease present

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

13

what is genetic anticipation in Huntingtons disease

with each generation, symptom onset is earlier and worse

14

how do you diagnose Huntingtons disease

PCR

15

What are genetic causes that predispose to Alzheimers disease

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