A Multicenter Phenotype-Genotype Analysis of LGMD Patients in China

A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China

Limb-girdle muscular dystrophies (LGMD) are a series of rare progressive genetic disorders that are characterized by wasting and weakness of the voluntary proximal muscles. The onset of the disease is usually at young age, and most patients will be wheelchair-bound due to the progressive deterioration. Since currently genetic therapies for this disease are still immature, better natural history and genotype-phenotype studies are needed for preparing future therapies.

This is multicentered-based, prospective, and observational study, which mainly focuses on the diagnosis and progression of limb-girdle muscular dystrophies (LGMD) in China. the investigators collect patient data including basic information, strength evaluations, genetic data, electromyography results, pathology imaging from muscle biopsies, and MRIs. Previously collected patient data may also be enrolled in this study.

Inclusion Criteria:

• Identified with variants regarding LGMD related genes revealed by genetic sequencing
• Progressive weakness involving shoulder girdle and/or pelvic girdle
• Myopathic changes in electromyography or in pathological studies

Exclusion Criteria:

• Identified with variants in other genes (non-LGMD related) that may cause muscular dystrophies