Ataxia-telangiectasia

Ataxia-telangiectasia is a rare, autosomal recessive multisystem disorder caused by pathogenic variants in the *ATM* gene, which disrupt cellular responses to DNA double-strand breaks and lead to genomic instability Hallmark clinical features include progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, and oculocutaneous telangiectasias, which are prominent dilated blood vessels on the conjunctiva and skin

Ataxia-telangiectasia is a rare, autosomal recessive multisystem disorder caused by pathogenic variants in the *ATM* gene, which disrupt cellular responses to DNA double-strand breaks and lead to genomic instability Typically presenting in early childhood, it primary affects the central nervous and immune systems, as well as the vasculature Affected individuals also demonstrate significant cellular and humoral immunodeficiency with recurrent sinopulmonary infections, profound hypersensitivity to...

Typically presenting in early childhood, it primary affects the central nervous and immune systems, as well as the vasculature Hallmark clinical features include progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, and oculocutaneous telangiectasias, which are prominent dilated blood vessels on the conjunctiva and skin Affected individuals also demonstrate significant cellular and humoral immunodeficiency with recurrent sinopulmonary infections, profound hypersensitivity to ionizi...