Symptoms
There is substantial variability in the severity of features of A-T between affected individuals, and at different ages. The following symptoms or problems are either common or important features of A-T:
- Ataxia (difficulty with control of movement) that is apparent early but worsens in school to pre-teen years
- Oculomotor apraxia (difficulty with coordination of head and eye movement when shifting gaze from one place to the next)
- Involuntary movements
- Telangiectasia (dilated blood vessels) over the white (sclera) of the eyes, making them appear bloodshot. These are not apparent in infancy and may first appear at age 5–8 years. Telangiectasia may also appear on sun-exposed areas of skin.
- Problems with infections, especially of the ears, sinuses and lungs
- Increased incidence of cancer (primarily, but not exclusively, lymphomas and leukemias)
- Delayed onset or incomplete pubertal development, and very early menopause
- Slowed rate of growth (weight and/or height)
- Drooling particularly in young children when they are tired or concentrating on activities
- Dysarthria (slurred, slow, or distorted speech sounds)
- Diabetes in adolescence or later
- Premature changes in hair and skin
Many children are initially misdiagnosed as having ataxic cerebral palsy. The diagnosis of A-T may not be made until the preschool years when the neurologic symptoms of impaired gait, hand coordination, speech and eye movement appear or worsen, and the telangiectasia first appear. Because A-T is so rare, doctors may not be familiar with the symptoms, or methods of making a diagnosis. The late appearance of telangiectasia may be a barrier to the diagnosis. It may take some time before doctors consider A-T as a possibility because of the early stability of symptoms and signs.
Read more about this topic: Ataxia Telangiectasia
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