Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

Sharon A McGrath-Morrow,1 Cynthia C Rothblum-Oviatt,2 Jennifer Wright,3 Haley Schlechter,4 Maureen A Lefton-Greif,5 Valerie A Natale,6 Thomas O Crawford,7 Howard M Lederman3 1Division of Pulmonary and Sleep, Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; 2A-T Clinical Center, Johns Hopkins Hospital, Baltimore, MD, USA; 3Division of Pediatric Allergy and Immunology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA; 4Institute for Clinical and Translational Research, Johns Hopkins School of Medicine, Baltimore, MD, USA; 5Eudowood Division of Pediatric Respiratory Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA; 6Forgotten Diseases Research Foundation, Santa Clara, CA, USA; 7Departments of Pediatrics and Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USACorrespondence: Sharon A McGrath-MorrowDivision of Pulmonary and Sleep, Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USAEmail mcgrathmos@chop.eduAbstract: Ataxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated (ATM) gene. In the absence of a family history, the diagnosis of A-T is usually not made until the child is older and symptomatic. Classic A-T is characterized by a constellation of clinical symptoms including progressive ataxia, oculocutaneous telangiectasias and sinopulmonary disease and is usually associated with absence of ATM protein. Other laboratory features associated with A-T include elevated serum levels of alpha-fetoprotein (AFP) and increased chromosomal breakage with in vitro exposure to ionizing radiation. Sinopulmonary symptoms can occur to varying degrees across the lifespan. Some children will also have hypogammaglobulinemia and impaired antibody responses requiring supplemental gamma globulin. People with hypomorphic ATM mutations are often considered to have mild A-T with onset of ataxia ...