Prospective cohort study of spinal muscular atrophy types 2 and 3.

ABSTRACT:

Objective

To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning.

Methods

We conducted a prospective observational cohort study of 79 children and young adults with SMA 2/3 who participated in evaluations for up to 48 months. Clinically, we evaluated motor and pulmonary function, quality of life, and muscle strength. We also measured SMN2 copy number, hematologic and biochemical profiles, muscle mass by dual x-ray absorptiometry (DXA), and the compound motor action potential (CMAP) in a hand muscle. Data were analyzed for associations between clinical and biological/laboratory characteristics cross-sectionally, and for change over time in outcome

SUBMITTER: Kaufmann P 

PROVIDER: S-EPMC3525313 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature