Friday, 15 October 2010

MRCP revision battle 30.6: Friedreich's ataxia

Friedreichs ataxia is an autosomal recessive trinucleotide repeat disorder (GAA)

It causes degeneration of nerve tracts resulting in cerebellar ataxia, dysarthria, nystagmus and dysdiadocholokinesis.

Muscles are weak, reflexes are depressed but plantars are upgoing.

There is often scoliosis and high arches of the feet.

Cardiomyopathy is another complication.

There is no cure.

Lets now try and forget all these incurable diseases with a touch of Alzheimer's...