Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings

Abstract

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder linked to mutations in the ATM gene, and is characterized by neurodegeneration with an early onset cerebellar syndrome, hyperkinetic movement disorders, neuropathy, and oculocutaneous telangiectasia. Immunodeficiency, pulmonary disease, growth failure, diabetes mellitus, increased malignancy risk and hypersensitivity to ionizing radiation complicate the clinical picture. Serum alpha-fetoprotein levels are increased in patients with A-T and can therefore serve as a diagnostic marker for the disease. In resource-limited settings, diagnosis and management of patients with a rare and complex disorder such as A-T may be extremely challenging. This expert opinion-based guideline aims to give an overview of diagnosis and management of A-T in resource-limited settings, by prioritizing different options based on medical necessity, availability, and costs.

Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation

“…Outside of selected published case reports and anecdotal experiences, Tanzanian neurogenetics is largely missing from the global neurogenetic landscape. Published cases include Becker muscular dystrophy ( Dekker et al, 2019 ), Huntington’s disease ( Scrimgeour, 1981 ), Motor neuron disease ( Dekker et al, 2018 ), Parkinson’s disease ( Dekker et al, 2020 ), Carpenter syndrome ( Lodhia et al, 2021 ), Adrenoleukodystrophy ( Dekker et al, 2019 ), Paroxysmal kinesigenic dyskinesia ( Dekker et al, 2020 ), Freeman-Sheldon syndrome ( Ali et al, 2017 ), Cornelia de Lange Syndrome ( Mende et al, 2012 ), Ataxia-Telangiectasia ( van Os et al, 2020 ), and Nodding syndrome ( Amaral et al, 2023 ). It is important to note that all of the above ascertained in Tanzania with molecular confirmation done overseas.…”