ataxia telangiectasia

An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11

An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.

Signs and symptoms

• Recurrent lower respiratory tract infections
• Ataxia
• Dysarthria
• Progressive cerebellar ataxia
• Conjunctival telangiectasia
• Elevated circulating alpha-fetoprotein concentration
• Choreoathetosis
• Strabismus
• Inability to walk
• Short stature

Also known as: Boder-Sedgwick syndrome; Louis Bar syndrome