Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia.

ABSTRACT:

Introduction

Friedreich's Ataxia (FRDA) is a progressive neurological disorder caused by mutations in both alleles of the frataxin (FXN) gene. Impaired bone health is a complication of other disorders affecting mobility, but there is little information regarding bone health in FRDA.

Methods

Dual energy X-ray absorptiometry (DXA) scan-based assessments of areal bone mineral density (aBMD) in individuals with FRDA were abstracted from four studies at the Children's Hospital of Philadelphia (CHOP). Disease outcomes, including the modified FRDA Rating Scale (mFARS), were abstracted from the FRDA Clinical Outcomes Measures Study (FACOMS), a longitudinal natural history study. A survey regarding bone health and fractures was sent to individuals in FACOMS-CHOP.

Results

SUBMITTER: Dunn J 

PROVIDER: S-EPMC8964400 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature