Friday, 15 October 2010

MRCP revision battle 30.5: Huntington's Chorea

Huntington's chorea is an autosomal dominant condition due to CAG repeats.

It is carried on chromosome 4.

Symptoms tend to start in the 40s with a progression from chorea to irritability to dementia and death.

There is no cure.  The chorea may be treated with a dopamine antagonist such as tetrabenazine.

Note that Hunington's has complete penetrance so a child of a sufferer has a 50% chance of being affected.  Due to anticipation if they are affected they are also likely to develop symptoms earlier.

Next up: Friedreich's ataxia...