Pharmacotherapy review and clinical, sub-clinical characteristics in limb-girdle muscular dystrophy

Abstract

Aims: Review pharmacotherapy in limb-girdle muscular dystrophy and describe clinical, and subclinical characteristics in patients of limb-girdle muscular dystrophy (LGMD). Methods: A meta-analysis with data in PubMed, up to May 2023 on the pharmacotherapy of LGMD combined with a cross-sectional study. Patients were diagnosed with LGMD according to the European Neuromuscular Centre (ENMC) in 1995 at E and Bach Mai Hospitals, from December 2022 to May 2023. Results: 21 studies in pharmacotherapy were conducted, and treatment therapies (glucocorticoid, biological antibody, gene therapy) initially showed safety and some effectiveness in muscular strength. There are some potential gene therapies. The clinical characteristic of collected 15 patients with LGMD was high onset age (20.7±12.5 years), and prolonged diagnosis time (6.3±5.5 years). Most patients showed signs of muscle weakness and muscle atrophy (100 and 86.7%), waddling gait, and Gower’s sign (93.3%). 100% of patients had increased creatine kinase (CK) of 1648.5±2235.8 U/l. Most patients had normal inflammatory indexes. On muscular histopathology, the majority of patients had muscle fiber degeneration, hypertrophy, fibrous tissue invasion, and fat infiltration (86.7%). Conclusions: Treatment therapies in LGMD initially showed safety and some effectiveness in muscular strength; the gene therapies are promising. Clinically, all patients showed signs of muscle weakness in the limb-girdle, most of them showed muscle atrophy, waddling gait, Gowers’ sign, increased CK, negative inflammatory markers, and muscle fiber degeneration on histopathology.