LAMA2-related muscular dystrophy (LAMA2-RD) is an inherited muscle disease. With new treatments being developed, there is increasing interest in learning more about how often LAMA2-RD occurs and how it progresses over time. This study looked at a group of patients with LAMA2-RD enrolled in the Swiss Registry for Neuromuscular Disorders, reviewing data from genetic tests, muscle biopsies, and brain scans. The study also analyzed clinical assessments such as movement ability, joint stiffness, spine curvature (scoliosis), eye movement problems, weight gain, feeding problems, breathing function, heart function, brain activity, mental ability, and schooling. The study included 18 patients, with an average age of 8.7 years. Four of them had a milder form of the disease, where they either could walk or had once walked but lost the ability to do so. 14 patients had a severe form, meaning they had never been able to walk. Most of the people with the severe form of the disease showed symptoms before they were one year old. The information obtained from this study is important for planning future treatments and for improving the care of people with LAMA2-RD.
This study has been published here: A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy