ataxia telangiectasia

An autosomal recessive disorder, Ataxia Telangiectasia, affects a person's nervous system, immune system, along with the other body parts. The disease causes difficulties in coordinating movements beginning in early childhood, usually before the age of 5.

A result of a mutation in the ATM gene, Ataxia Telangiectasia, approximately affects one in 40,000 – 100,000 live births in the US. Ataxia Telangiectasia (A-T) is a rare, inherited neurodegenerative disorder that primarily affects the nervous and immune systems. It belongs to a group of conditions known as autosomal recessive disorders, which means that both copies of the responsible gene must be mutated for the condition to manifest. A-T is caused by mutations in the ATM gene (Ataxia Telangiectasia Mutated), which is essential for cell cycle regulation and DNA repair.

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