How Do You Spell ATAXIA TELANGIECTASIA?

1. Ataxia Telangiectasia (A-T) is a rare, genetic, progressive, and neurodegenerative disorder that primarily affects children. It is characterized by a combination of symptoms, including progressive loss of muscle coordination (ataxia), small, dilated blood vessels near the surface of the skin (telangiectasias), immunodeficiency, and increased susceptibility to cancers.

   The underlying cause of Ataxia Telangiectasia is a mutation in a gene called ATM (Ataxia Telangiectasia Mutated). This gene is responsible for producing a protein that plays a crucial role in repairing damaged DNA, maintaining the stability of the genome, and controlling cell cycle progression. As a result of the ATM gene mutation, individuals with A-T experience DNA damage accumulation, genome instability, and impaired cell cycle checkpoints.

   Children with Ataxia Telangiectasia often develop symptoms during early childhood, typically between the ages of 1 and 4. They may experience difficulties with motor skills, such as walking, speech, and fine motor coordination. Additionally, they often have weakened immune systems, making them more prone to infections. The development of cancer, particularly leukemia and lymphoma, is also more common in individuals with A-T.

   Currently, there is no cure for Ataxia Telangiectasia. Treatment primarily focuses on managing the symptoms and providing supportive care to improve the quality of life for affected individuals. This may involve physical therapy, speech therapy, respiratory support, and regular surveillance for potential infections and cancer development.

Common Misspellings for ATAXIA TELANGIECTASIA

The word "Ataxia Telangiectasia" has its roots in Greek and Latin.

1. Ataxia: The term "Ataxia" comes from the Greek word "a-" meaning "without" and "taxia" meaning "order" or "arrangement". Ataxia refers to a lack of coordination or abnormality in voluntary movements.

2. Telangiectasia: The term "Telangiectasia" combines the Greek word "telos" meaning "end" or "extremity" and "angiectasia" which is derived from "angeion" meaning "vessel" and "ektasis" meaning "extension". Telangiectasia refers to the dilation or widening of small blood vessels near the skin's surface.

Therefore, "Ataxia Telangiectasia" literally means a condition characterized by lack of coordination and the dilation of blood vessels.