Limb girdle muscular dystrophies

We aimed to identify the symptoms that most impact quality of life in individuals with limb girdle muscular dystrophy (LGMD). LGMD is a group of multisystem disorders impairing the physical, mental, and social health of patients while inflicting significant disability. The identification of the symptoms and manifestations most significant to a patient's health and the relationship between these issues and patient characteristics are lacking in LGMD. LGMD-affected individuals from patient registries (JAIN foundation, C3 registry, and global FKRP registry) that include both mixed LGMD and disease specific patient populations (LGMDR1, R2 and R9) participated in a large cross-sectional study to determine the frequency and relative importance of LGMD symptoms identified through prior structured patient interviews.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: N. Johnson, J. Statland, C. Weihl, K. Bates, A. Amato, P. Kang, L. Lowes, K. Mathews, T. Mozaffar, V. Straub, K. Wagner, C. Heatwole Source Type: research