Ontology highlight
ABSTRACT:
SUBMITTER: Pommerening H
PROVIDER: S-EPMC4673730 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Pommerening H H van Dullemen S S Kieslich M M Schubert R R Zielen S S Voss S S
Orphanet journal of rare diseases 20151209
<h4>Background</h4>Ataxia-telangiectasia (A-T) is a devastating human autosomal recessive disorder that causes progressive cerebellar ataxia, immunodeficiency, premature aging, chromosomal instability and increased cancer risk. Affected patients show growth failure, poor weight gain, low body mass index (BMI), myopenia and increased fatigue during adolescence. The prevalence of alterations in body composition, muscle strength and hormonal status has not been well described in classical A-T patie ...[more]