Ataxia-telangiectasia

Key Points
Rare neurodegenerative disease which affects the brain and skin
Caused by an inherited gene mutation
Cutaneous symptoms consist of the formation of small spider veins around the eyes, ears and cheeks starting around 3 years of age

Ataxia-telangiectasia is a rare neurodegenerative disease which primarily affects the brain and skin. While cutaneous symptoms consist of the formation of small, spidery veins around the eyes, which spread to the cheeks and ears, its affect on the brain is progressive and debilitating. Neurological effects include progressive loss of motor function, speech, and mental deterioration. Additionally, affected persons will have weakened immune systems and an increased risk of cancer development.

Ataxia-telangiectasia is an inherited gene mutation, and is autosomal recessive, which means only persons with two parents who carry the gene will develop the condition. The condition may affect anyone regardless of ethnic or gender group, and typically appears in early childhood.

Differential Diagnosis (Other conditions with similar appearance)

Osler-Weber-Rendu syndromeGeneralized Essential TelangiectasiaBloom syndrome

Diagnosis

Key Points
Diagnosis based on laboratory tests after clinical presentation of symptoms
Radiological testing will be performed to confirm diagnosis

Ataxia-telangiectasia is typically diagnosed based on laboratory tests performed after the clinical presentation of symptoms. These tests will also rule out similar appearing conditions. Radiological testing will be performed to confirm the diagnosis.

Treatment
No cure exists for the condition
No specific treatment exists to arrest progress of the condition
Treatment typically consists of relieving symptoms and prevention of complications

No cure exists for Ataxia-telangiectasia, and there is no specific treatment which is effective in arresting its progression. Treatment typically consists of the relief of specific symptoms and prevention of complications due to the condition. Affected persons are generally confined to wheelchairs by age 11, and most will die by early adulthood as a result of complications such as chronic respiratory conditions or cancer.

Written by Chris Schach