Friedreich’s ataxia

Friedreich’s ataxia is an autosomal recessive trinucleotide repeat disorder of GAA caused by the frataxin gene on chromosome 9.

Clinical manifestations of Friedreich’s ataxia include:
  • Cerebellar ataxia
  • Dysarthria
  • Atrophy and weakness of distal extremities
  • Babinski sign
  • Loss of joint and vibratory senses
  • Stocking and glove sensory neuropathy
  • Cardiomyopathy (around 60%)
  • Diabetes (around 30%, late in the disease)
  • Nystagmus (occasionally)

Friedreich’s ataxia is also associated with pes cavus and scoliosis. (60%)

Onset tends to be in the teens.
There is no cure and the mean age of death is around 37.

Small print gem:  Friedreich’s ataxia is caused by a point mutation rather than trinucleotide repeat in around 2% of cases.
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