A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.

ABSTRACT:

Background

LAMA2-related muscular dystrophy (LAMA2-RD) is an autosomal-recessive disorder and one of the most common congenital muscular dystrophies. Due to promising therapies in preclinical development, there is an increasing effort to better define the epidemiology and natural history of this disease.

Objective

The present study aimed to describe a well-characterized baseline cohort of patients with LAMA2-RD in Switzerland.

Methods

The study used data collected by the Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD). Diagnostic findings were derived from genetics, muscle biopsy, creatine kinase-level and electrophysiological testing, as well as from brain MRIs. Further clinical information included motor assessments (CHOP INTEND, MFM20/32), joint contract

SUBMITTER: Enzmann C 

PROVIDER: S-EPMC11380305 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature