IllnessAtaxia telangiectasia

NGS +

Ataxia telangiectasia affects the nervous, the immune and other systems of the organism. Ataxia usually begins before 5 years of age and may be accompanied by chorea, myoclonus and neuropathy. Slurred speech and oculomotor apraxia are prominent, along with telangiectasias in the eyes and skin. High levels of alpha-fetoprotein in the blood and chronic lung infections are characteristic. The risk of developing leukemia, lymphoma and other malignancies is increased - even in heterozygous state. Affected individuals are particularly sensitive to the effects of radiation exposure. Life expectancy of people with ataxia telangiectasia varies widely, but affected individuals typically reach early adulthood. Inheritance is autosomal recessive, with DNA diagnostic yields exceeding 90%. If pathogenic variants are not identified, the clinical diagnosis is by no means excluded.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK25468/

• Alias: Louis-Bar syndrome (ATM)
• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Allelic: Lymphoma, mantle cell, somatic (ATM)
• Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
• Ataxia-telangiectasia (ATM)