Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Amy's Updated Board Exam Deck > Week 5: Medical Genetics- Movement Disorders > Flashcards

Week 5: Medical Genetics- Movement Disorders Flashcards

1
Q

Inheritance of Dopa Responsive Dystonia

A

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

2 features that accompany dopa-responsive dystonia

A

Parkinson features, diurnal variation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Inheritance of myoclonus dystonia

A

AD (imprinting)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

2 features that accompany myoclonus dystonia

A

Myoclonus, psych features

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Myoclonus dystonia is responsive to

A

Alcohol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Inheritance of rapid onset dystonia parkinsonism

A

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

4 features that accompany rapid onset dystonia parkinsonism

A

parkinson, dysarthric speech, seizures, psychosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

3 genes in AR Parkinson Disease

A

PARK2, PINK1, DJ-1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

3 genes in AD Parkinson Disease

A

LRRK2, GBA, VPS35

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Inheritance of spinocerebellar ataxia

A

AD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

3 major features of spinocerebellar ataxia

A

Ataxia, spasticity, ophthalmoplegia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Inheritance of Friedrich’s ataxia

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Mutation in Friedrich’s ataxia

A

GAA trinucleotide repeat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

In addition to ataxia, what other features are seen in Friedrich’s ataxia?

A

Cardiomyopathy, scoliosis, diabetes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Inheritance of ataxia with oculomotor apraxia

A

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

3 major features of ataxia with oculomotor apraxia

A

Cerebellar ataxia, oculomotor apraxia, peripheral axonal sensory neuropathy

17
Q

Inheritance of ataxia Telangiectasia

A

AR

18
Q

Neurologic features in Ataxia Telangiectasia

A

Ataxia, chorea, dystonia, oculomotor apraxia

19
Q

Non-Neurologic features in Ataxia Telangiectas

A

Telangiectasis, immunodeficiency, increased risk for leukemia/lymphona; elevated serum AFP

20
Q

Inheritance of Ataxia with Vit E deficiency

A

AR

21
Q

Neurologic symptoms in Ataxia with Vit E deficiency

A

Progressive ataxia, dysarthria, loss of proprioception, areflexia

22
Q

Non-neurologic symptom in Ataxia with Vit E deficiency

A

Retinitis pigmentosa

Amy's Updated Board Exam Deck (30 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions