The first indications of ataxia in A-T usually occur during the toddler years. Children with A-T start walking at the typical age (about 12 months), but may not then improve much from their initial wobbly gait. Often they have problems standing or sitting still, and tend to sway backward or from side to side. They often appear to have better balance when they run or walk quickly in comparison to when they walk slowly or stand in one place. During the primary school years, children with typical forms of A-T will seek assistance to walk and then start using a wheelchair, at first for long distances but eventually in place of all walking.
During school years, children have increasing difficulty with reading because of impaired coordination of eye movement. At the same time, fine motor functions (writing, coloring, eating with utensils, brushing of teeth and hair) may deteriorate. Most of these neurologic problems stop progressing after the age of about 12-16 years.
Difficulties with speech articulation and phonation are often apparent in preschool years and may or may not worsen over time. Children often prefer not to speak in public or unfamiliar places, but communicate more with family and friends.
Involuntary movements may start at any age and worsen over time. These extra movements can take many forms, including:
- Chorea (small jerks of the hands and feet that look like fidgeting)
- Athetosis (slower twisting movements of the upper body)
- Dystonia (adoption of stiff and twisted postures)
- Myoclonic jerks (occasional uncontrolled jerks)
- Tremors (various rhythmic movements with attempts at coordinated action).
Managing Neurologic Problems
There is no treatment known to slow or stop the progression of the neurologic problems. Treatment of A-T is symptomatic and supportive. Physical, occupational and speech therapies as well as exercise may help maintain function but will not slow the course of neurodegeneration. Therapeutic exercise is worthwhile for purposes of improving overall health, but should not be done to the point of fatigue that interferes with activities of daily life. One cannot improve general coordination by training, but therapies may provide insight into potential “work-arounds” or alternative strategies that can improve the ability to perform specific tasks.
Certain anti-Parkinson and anti-epileptic drugs may be useful to manage symptoms, but should be prescribed only in consultation with a neurologist. These drugs have varying degrees of success in people with A-T. Treating the non-neurologic problems associated with A-T, such as undernutrition, appears to benefit brain function.