10 Unmissable Signs You Might Have Ataxia-Telangiectasia - No Doctor's Appointment Needed

5. Issues With Infections

Some individuals affected by ataxia-telangiectasia have a form of immunodeficiency. The most common types of infections found in ataxia-telangiectasia patients include those of the sinuses and lungs that are caused by viruses and bacteria. This immunodeficiency is linked to the inability of the patient's body to produce enough antibodies and low levels of immunoglobulin. Immunoglobulin A is the antibody that helps protect an individual from contracting infections from bacteria and viruses that come in contact with the mucosal surfaces, like the intestinal lining, nasal lining, airway lining, and inside of the cheek. In addition, a problem with the production of antibodies against certain polysaccharides present inside of the bacteria known to cause infections such as pneumonia, sinusitis, and bronchitis, which are often seen in ataxia-telangiectasia patients. Low numbers of B and T lymphocytes are also a contributing factor to the issues with infections in individuals affected by ataxia-telangiectasia. Low levels of IgG, IgM, IgA, and subclasses of IgG are known to cause problems with the production of too little antibodies in patients.

6. Delayed Motor Skill Milestones

For parents, a crucial early indicator can be subtle delays in achieving typical motor skill milestones. While every child develops at their own pace, a noticeable slowness in sitting up unsupported, crawling, walking, or even performing precise hand movements (like stacking blocks or holding a spoon) might be more than just a slight delay. These early difficulties, especially when combined with a progressively unsteady gait, can be an initial, quiet warning sign, signaling underlying neurological challenges that warrant professional assessment.