Limited mobility, activity typically seen with limb girdle muscular dystrophy

Survey data provided insight into the symptomatic burden of limb girdle muscular dystrophy, according to study results published in Neuromuscular Disorders.

“Knowledge of symptoms and issues with the greatest impact is essential in guiding the development of novel therapeutics and improvement of clinical care, but quantitative patient-reported data on symptom impact and [quality of life] QoL are scarce for individuals with [limb girdle muscular dystrophy] LGMD,” Laurel V. Kovalchick, BS, of the department of neurology at Virginia Commonwealth University, and colleagues wrote. “This study aims to determine the patient-reported frequency and impact of symptoms in patients diagnosed with LGMD.”

Researchers analyzed surveys from 134 individuals diagnosed with LGMD whose data were available across three registries and who completed a survey on the frequency and relative effect of themes and symptoms of LGMD. They determined frequency, mean impact and population impact scores and categorized responses by age, symptom duration, gender, employment status, assistive devices use and LGMD subtypes.

Results showed an inability to do activities (100%), limitation with mobility (99.3%) and lower extremity weakness (97%) were the most common themes. Limitations with mobility, lower extremity weakness and an inability to do activities had the greatest impact. Symptom duration and the assistive devices use correlated with the presence of multiple themes. Employment had an effect on several themes with no variance in frequency. The LMGD population exhibited variance in the prevalence and impact of these themes.

Themes related to weakness accounted for the most prevalent and impactful themes; however, researchers noted that other concerns linked to emotional challenges are important considerations in clinical and research settings.

“Knowledge of these symptoms and the way they may influence patients’ lives is valuable to providers who care for this population, as well as to those who work on the research and development of new therapeutics,” Kovalchick and colleagues wrote. “Patient-reported data will improve patient lives by highlighting unique needs and relevant outcome measures of research and clinical trials by providing information on not only the most common symptoms but also those that are the most impactful.”