A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy.

ABSTRACT:

Objective

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by proximal muscle weakness and atrophy. The increasing availability of disease-modifying therapies has prompted the development of biomarkers to facilitate clinical assessments. We explored the association between disease severity and serum creatinine (Crn) levels in SMA patients undergoing up to two years of treatment with nusinersen.

Methods

We measured serum Crn levels and assessed function performance using the Hammersmith Functional Motor Scale-Expanded (HFMSE), Medical Research Council Scale (MRC), 6-Minute Walk Test (6MWT), ulnar Compound Muscle Action Potential (CMAP), and forced vital capacity (FVC) in a cohort comprising 28 adolescent and adult patients with SMA.

SUBMITTER: Zhao X 

PROVIDER: S-EPMC11670464 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature