A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.

ABSTRACT:

Background

New paradigms of diagnosis and treatment have changed the neurodegenerative trajectory for individuals with spinal muscular atrophy (SMA). Registries are a critical tool to provide real-world data on treatment patterns, their effects and health care provision within this evolving paradigm of care. This study aimed to evaluate the phenotypic and genotypic landscape, treatment patterns and health impact of SMA in Australia through the national registry.

Methods

This cross-sectional study investigated demographic, clinical and genetic information, sequelae of weakness, treatment patterns and patient-reported outcomes amongst individuals with SMA enrolled in the Australian Neuromuscular Disease Registry (ANMDR) from 1st January 2020 to 30th April 2023. Descriptive sta

SUBMITTER: Balaji L 

PROVIDER: S-EPMC11570865 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature