An early symptom of Ataxia telangiectasia is diminished muscle coordination usually noticed when a child begins to walk. Coordination (especially in the head and neck area) becomes impaired, and tremors (involuntary muscle contractions) can occur. In most cases, mental functioning is not affected and most children exhibit normal or above average intelligence.
The telangiectasias (visible dilated blood vessels) usually begin in the eyes (the eyes look “bloodshot”) between three and six years of age, although they can occur earlier. These discolorations may spread to the eyelids, face, ears, roof of the mouth and possibly other areas of the body. Rapid eye blinking and movements, and turning of the head may develop gradually. Occasional nosebleeds may also occur. The adenoids, tonsils and peripheral lymph nodes may develop abnormally or fail to develop. Muscle coordination in the head and neck area may be gradually impaired causing poor cough reflexes and problems with swallowing, breathing, drooling, and choking. Slurred speech and variable jerking, writhing and tic-like movements also be noticed.
Growth retardation can be linked to a growth hormone deficiency. Premature aging occurs in approximately ninety percent of affected individuals and is characterized by gray hair with dry, thin, wrinkled or DiscoloRed skin during adolescence. A variety of other skin or hair problems may develop in some cases. Abnormalities of hormone producing (endocrine) glands may be accompanied by incomplete sexual development in both males and females.
Because of an impaired immune response, affected individuals may be more susceptible to chronic sinus and/or lung infections, recurring cases of pneumonia and chronic bronchitis.
Persons with this disorder may be affected by a high incidence of carcinoma and lymphoma usually beginning during early adulthood. Approximately one in three affected individuals develop cancer, usually cancer of certain malignancies, particularly of the lymphatic system (lymphomas) or of the blood (leukemia). Exposure to x-rays seems to increase the incidence of possible tumors. In addition, individuals with one Ataxia telangiectasia gene (carriers) also appear to have an elevated risk for cancer. Close relatives of persons with Ataxia telangiectasia may be at a higher risk of developing certain types of cancer than the general population.
In some cases, a mild form of diabetes mellitus may occur. Diabetes mellitus is a condition in which there is insufficient secretion of the hormone insulin. Primary symptoms may include abnormally increased thirst and urination (polydipsia and polyuria), weight loss, lack of appetite, and fatigue.