Ataxia Telangiectasia

Ataxia Telangiectasia (AT), also known as Louis-Bar syndrome, is a rare, inherited, degenerative, neurological disease. It is characterised by progressive difficulty in controlling movement (ataxia), accompanied by progressive loss of muscle tone (hypotonia), telangiectasia (abnormal widening of small superficial blood vessels), immunological deficiencies and high levels of chromosomal breakage. It affects both males and females and is usually detectable before the age of five. AT is caused by a genetic mutation in the ATM (ATM Serine/Threonine Kinase) gene which is found on chromosome 11. In most cases, AT is inherited from a parent, usually the mother, due to a recessive gene being passed on to the child. The primary symptom of AT is ataxia, the lack of balance and coordination of voluntary movements. Typically, the lack of coordination initially affects the eyes (eye movements) but gradually affects the fine motor skills of the hands and arms as well as balance and gait. As the disease progresses, there is a progressive increase in telangiectasia of the eyes, mouth, nose and other parts of the body, and an increase in short-term disability due to the inability to walk, speak and perform self-care tasks. Other associated symptoms include growth retardation, delayed sexual development, immune deficiencies and recurrent respiratory infections. While there is no cure for AT, early diagnosis and multidisciplinary team-based medical management can lead to improved quality of life. Treatment for the condition typically focuses on maintaining muscle strength and movement, reducing or preventing infection and injury, and addressing the physical and psychosocial needs of the individual. As such, intervention may involve both practical care such as physiotherapy, occupational therapy, speech therapy, and dietary advice, as well as counseling to assist the family with any psychosocial issues relating to the condition.