Other symptoms

There are a range of other symptoms in A-T which although they can be problematic are not usually life-threatening.

Telangiectasia

Although telangiectasia or visible blood vessels in the eye or on the surface of the skin is one of the more visible symptoms of A-T - and indeed gives the condition part of its name - it is usually a cosmetic problem rather than anything else. The telangiectasia usually appears at a few years of age, although some people never get it. It is most common on the whites of the eyes, and it may also appear on the skin of the face, head and neck.

Eyes showing telangiectasia

What distinguishes telangiectasia from the blood-shot eyes that anyone can get is that it remains relatively unchanging. The veins do not usually itch or cause any other problems.

It is not known how the lack of ATM protein causes telangiectasia. However there is some evidence that telangiectasia can also occasionally occur on internal organs, such as the bladder, the liver or the lungs.

Postural problems

Many people with A-T have problems with their feet. There are a range of different conditions but the more common ones include the feet turning inwards, problems with the ankles, arches being very high and toes curving down. These conditions are likely to be caused by a combination of altered muscle function and altered movement patterns, particularly the reduction in walking. Attempting to walk or weight-bearing with these altered or deformed feet or ankles can be painful.

It is better to try and avoid these deformities happening rather than seeking to cure them once they have, so regular physiotherapy and stretching is very important. Some people wear splints for support or to stretch the tendons.

Occasionally people with A-T can develop scoliosis or curvature of the spine. While not common, this does seem to be happening more frequently than in the general population. If scoliosis becomes severe it can require an operation and that in turn can bring major problems for someone with A-T. Again, regular check-ups are recommended to try to prevent this occurring in the first place. 

Delayed puberty

A-T can cause puberty to be delayed, and it is reported that it can sometimes be incomplete. For girls and young women this can mean that periods are slow to start or irregular. However like most aspects of A-T this is by no means the case for everyone. It is also not the case that A-T necessarily leads to infertility. A number of people with A-T have children, though it must be acknowledged that these are mostly people with milder forms or late onset of the condition.

Inevitably, though, this is one of those areas that is less talked about and where the symptoms themselves may not be so obvious. There is therefore not as much information available about this as about other aspects of A-T. However, we hope to build up our knowledge of this and be able to publish more information in future.