Ataxia Classification

Question 1

NCS/EMG findings of friedrich’s ataxia

Answer 1

abnormal SNAP, normal CMAP, abnormal activity of EMG

Question 2

most common inherited form of mental retardation

Answer 2

fragile x syndrome

Question 3

genetics of friedrich’s ataxia

Answer 3

autosomal recessive

Question 4

deficiency of what vitamin can cause a non-hereditary ataxia

Answer 4

vitamin E

Question 5

genetics of fragile x tremor ataxia syndrome

Answer 5

x-linked

Question 6

5 need to know things about friedrich’s ataxia

Answer 6

1. optic atrophy
2. kyphoscoliosis
3. areflexia
4. pes cavus
5. hypertrophic obstructive cardiomyopathy

Question 7

genetics of ataxia-telangiectasia

Answer 7

autosomal recessive

Question 8

in ataxia-telangiectasia, where do you get the telangiectasias?

Answer 8

the eye

Question 9

what kind of peripheral neuropathy is seen in friedrich’s ataxia

Answer 9

axonal sensory peripheral neuropathy

Question 10

genetics of spinocerebellar ataxia

Answer 10

autosomal dominant

Question 11

2 main groups of ataxia

Answer 11

1. hereditary

2. non-hereditary

Question 12

3 main groups of hereditary ataxia

Answer 12

1. autosomal dominant
2. autosomal recessive
3. x-linked