Classic ataxia-telangiectasia: the phenotype of long-term survivors.

ABSTRACT:

Objective

Patients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop a complex multisystem disorder with a largely unknown extent and severity, we aimed to comprehensively assess their full clinical picture.

Methods

Data from Dutch patients with classic A-T above the age of 30 years were retrospectively collected. In addition, we searched the literature for descriptions of classic A-T patients who survived beyond the age of 30 years.

Results

In the Dutch cohort, seven classic A-T patients survived beyond 30 years of age.

SUBMITTER: van Os NJH 

PROVIDER: S-EPMC7035236 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature