Friedreich's ataxia Flashcards

1
Q

Genetic component

A

trinucleotide repeat
- GAA repeat in the X25 gene on chromosome 9 (frataxin)

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2
Q

Inheritance pattern

A

autosomal recessive

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3
Q

Typical age of onset of Friedreich’s ataxia

A

10-15 years old

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4
Q

Most common presenting features

A

Gait ataxia
kyphoscoliosis

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5
Q

Neurological features

A

absent ankle jerks/extensor plantars
cerebellar ataxia
optic atrophy
spinocerebellar tract degeneration

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6
Q

Other features of disease

A

hypertrophic obstructive cardiomyopathy (90%, most common cause of death)

diabetes mellitus (10-20%)

high-arched palate

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7
Q
A
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