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BOARD Exam > Week 5: Medical Genetics- Movement Disorders > Flashcards

Week 5: Medical Genetics- Movement Disorders Flashcards

1
Q

Inheritance of Dopa Responsive Dystonia

A

AD

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2
Q

2 features that accompany dopa-responsive dystonia

A

Parkinson features, diurnal variation

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3
Q

Inheritance of myoclonus dystonia

A

AD (imprinting)

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4
Q

2 features that accompany myoclonus dystonia

A

Myoclonus, psych features

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5
Q

Myoclonus dystonia is responsive to

A

Alcohol

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6
Q

Inheritance of rapid onset dystonia parkinsonism

A

AD

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7
Q

4 features that accompany rapid onset dystonia parkinsonism

A

parkinson, dysarthric speech, seizures, psychosis

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8
Q

3 genes in AR Parkinson Disease

A

PARK2, PINK1, DJ-1

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9
Q

3 genes in AD Parkinson Disease

A

LRRK2, GBA, VPS35

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10
Q

Inheritance of spinocerebellar ataxia

A

AD

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11
Q

3 major features of spinocerebellar ataxia

A

Ataxia, spasticity, ophthalmoplegia

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12
Q

Inheritance of Friedrich’s ataxia

A

AR

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13
Q

Mutation in Friedrich’s ataxia

A

GAA trinucleotide repeat

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14
Q

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

A

Cardiomyopathy, scoliosis, diabetes

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15
Q

Inheritance of ataxia with oculomotor apraxia

A

AR

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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

BOARD Exam (28 decks)

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