What is Ataxia Telangiectasia?
Ataxia Telangiectasia is a rare, progressive genetic disorder that can impact various bodily systems, primarily the nervous and immune systems. It usually presents in early childhood, typically before the age of 5.
What causes Ataxia Telangiectasia?
Ataxia Telangiectasia occurs due to changes in a gene called Ataxia-Telangiectasia-Mutated (ATM). This gene gives instructions for making a protein called ATM Kinase, which helps fix damaged DNA in our cells. When there are changes in this gene, it affects the function of ATM Kinase, making it harder for cells to repair DNA properly. Hence, DNA damage starts to build up over time. This causes various symptoms of AT, like trouble with coordination, weak immune systems and a higher chance of getting cancer.
How is Ataxia Telangiectasia passed on?
Ataxia Telangiectasia is an autosomal recessive condition, meaning that both parents need to pass on a changed ATM gene for their child to develop the condition. People who inherit only one changed gene usually do not have symptoms themselves but could pass the changed gene to their kids.
What are the symptoms of Ataxia Telangiectasia?
Symptoms of Ataxia Telangiectasia can vary, but typically include:
• Ataxia: This refers to difficulties in coordination and balance, resulting in challenges such as unsteady walking, clumsiness, slurred speech, swallowing problems, and difficulty with precise hand movements like writing or dressing
• Telangiectasia: Small, red, “spider” veins commonly seen around eyes, ears, or cheeks
• Immune system deficiencies: Individuals with Ataxia Telangiectasia are more susceptible to infections, especially respiratory ones like sinusitis, ear infections or lung infections, which may occur more frequently
• Increased cancer risk: Those with Ataxia Telangiectasia face an increased likelihood of developing specific cancers like lymphoma and acute lymphocytic leukaemia
• Delayed development: Children with Ataxia Telangiectasia may experience delays in both cognitive and physical growth, impacting learning abilities and achieving developmental milestones such as crawling, sitting or walking
• Oculomotor apraxia: Voluntary eye movements are hampered, thereby making tasks such as reading or tracking moving objects challenging
• Progressive neurological decline: Over time, symptoms of Ataxia Telangiectasia typically worsen, leading to escalating disability and reliance on caregivers
It is essential to recognise that the severity of these symptoms can vary among individuals
How do we diagnose Ataxia Telangiectasia?
Individuals suspected of having Ataxia Telangiectasia undergo a thorough diagnostic process, involving clinical assessments, genetic testing and laboratory tests. Radiological tests, such as MRI brain, may also be performed.
How do we manage Ataxia Telangiectasia?
Currently, there is no cure for Ataxia Telangiectasia. However, various therapeutic options exist to manage symptoms, decrease chances of complications, and enhance quality of life. A multi-disciplinary team, including neurologists, immunologists, dieticians, speech and language therapists, and social workers, collaborates to address the unique needs of each individual. This holistic approach aims to support individuals with Ataxia Telangiectasia and their families comprehensively. Unfortunately, life expectancy for those with Ataxia Telangiectasia is typically shortened.
Credits:
Sharan Reghunathan – University of Mancheser 5th year medical student