Limb-girdle muscular dystrophy

Limb girdle muscular dystrophy (LGMD) is characterized by progressive proximal muscle weakness with high genetic heterogeneity. LGMD is the fourth prevalent form of muscular dystrophies in the adult neurology department. Since most patients are juvenile-or adult-onset and present as limb muscle weakness, it would be easily misdiagnosed as myositis or metabolic myopathies. The final diagnosis depends on muscle immunohistochemical staining, Western blotting and genetic screening. In China, LGMD2B and LGMD2A are the most prevalent forms, accounting for 74.3% in overall LGMD. Patients with LGMD2B usually have onset age between 19-27 years old. LGMD2B patients present as asymptomatic hyper creatine kinase emia (CK) at the early stage, and later develop to typical proximal muscle weakness with bilateral calf atrophy and extremely high serum CK. The onset age of LGMD2A patients is between 7-18 years old. LGMD2A patients presented as proximal muscle weakness with or without bilateral scapular winging and Achilles tendon contractures. Serum CK can be moderately or highly elevated. Current therapies are mainly supportive and the effective treatment is insufficient. The ongoing global clinical history study and gene therapy bring us new hope for treating LGMD in the coming future. Key words: Muscular dystrophy, limb-girdle; Biopsy; Gene; Dysferlin; Calpain