Telangiectases are often found in the pinnae, on the cheeks, and on the forearms, usually after the onset of neurological signs. However, this is also a disorder with multiple systemic signs, the most serious of which are unusual sensitivity to ionizing radiation, excessive chromosomal breakage, a deficiency in the immune system, mild cognitive impairment, and increased risk of malignancies. Lymphomas, often of B-cell origin, and leukemia, usually of T-cell origin, are the most common malignancies but there is a significantly increased risk of breast cancer as well. Serum IgG2 and IgA levels are often reduced and sinopulmonary infections are common. Serum alpha-fetoprotein levels are usually increased. The ataxia is progressive and often begins as truncal unsteadiness with limbs involved later. It is often accompanied by choreoathetosis and/or dystonia which may result in severe disability by the second decade. Life span is shortened and many patients succumb to their disease by the 3rd and 4th decades.
In some famiies with confirmed mutations in ATM the disorder presents with signs of primary torsion dystonia and myoclonus-dystonia. These signs may resemble an apparent autosomal dominant pattern with parent-child transmission. It is unclear whether these families represent a variant of AT or a unique disorder. The latter is suggested by an earlier onset of signs, the lack of cerebellar atrophy, and the absence of ataxia and ocular telangiectases on initial presentation. The risk of malignancies in these famiies is high.
Some of these signs have been reported in milder form among heterozygous carriers as well. The most serious is an increased risk of malignancy, perhaps as much as 6.1 times that of non-carriers. This combined with the inherent sensitivity to ionizing radiation has led to the suggestion that X-rays should be used with caution, especially when considering mammograms among female relatives.
