Clinical features

Symptoms first become apparent in early childhood with delayed motor development and mild learning disabilities. Thereafter there is relentless progression to severe learning disabilities which may be associated with choreoathetoid movements.

The child is typically wheelchair bound by the age of 10 or 11 years of age.

A characteristic feature of the disease is the presence of telangiectasia, typically present on the conjunctivae or the skin of the face and ears

• this feature may not be present in all patients and may disappear as the patient grows older

There is a tendancy to increased infections, secondary to low immunoglobulin levels.

If the patients survive to puberty there may be failure to develop secondary sexual characteristics.

The patient with ataxia telangiectasia typically succumbs to complications and dies in the second or early third decade of life.

Reference:

1. Furtado S et al. A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects. Parkinsonism & Related Disorders; 4 (4):161-169.