Respiratory Function in Friedreich's Ataxia.

ABSTRACT:

Background

Friedreich's ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy. Alterations of respiratory dynamics and parameters are frequently observed. However, in the literature there are few, dated studies with small cohorts. Our study aims to make an objective analysis of the respiratory condition of both early and late stage FRDA patients, looking for correlations with the motor, skeletal, speech and genetic aspects of this condition.

Materials and methods

This retrospective observational study is based on the collection of clinical and instrumental respiratory data of 44 subjects between 13 and 51 years attending a

SUBMITTER: Vinante E 

PROVIDER: S-EPMC9497209 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature