Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy.

ABSTRACT:

Background

Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder linked to androgen receptor gene mutations, often associated with metabolic abnormalities. We aimed to investigate the incidence of fragility fractures and the underlying mechanisms in SBMA.

Methods

Consecutive genetically confirmed SBMA patients and healthy controls (HC) were enrolled. We surveyed fracture history and assessed motor function, bone metabolism markers, and bone mineral density (BMD) using dual-energy X-ray absorptiometry. Longitudinal BMD changes were also analyzed between SBMA patients and HC.

Results

A total of 109 SBMA patients and 21 HC were included. Fragility fractures in SBMA patients were mainly observed in cortical bone-dominant regions. Their lower lim

SUBMITTER: Kawase T 

PROVIDER: S-EPMC12676183 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature