Girdle-muscular dystrophy TYPE 2BThe limb-girdle muscular dystrophies (LGMD) are a rare (5-70 people in 1 million) and diverse set of hereditary muscle diseases characterized by progressive wasting and weakness of the pelvic muscles and shoulder girdle (Emery, 2002). Currently, at least 19 forms of autosomal dominant (LGMD type 1) and autosomal recessive (LGMD type 2) have been identified (Lo et al., 2008). This essay will try to focus on LGMD type 2B (LGMD2B or primary dysferlinopathy). LGMD2B is one of the most common autosomal recessive LGMDs. Figure 1 shows the frequency of LGMD in Australia in 2008 (Lo et al., 2008). LGMD2B presents very rarely during childhood, usually presenting suddenly in the second decade of life, but cases of late presentation after 70 years of age are rare (Straub and Bushby, 2006). LGMD2B patients have normal to excellent motor performance throughout childhood and adolescence (Straub and Bushby, 2006). In their late teens or early twenties, LGMD2B patients usually begin to notice weakness of the girdles, pelvis, and femur, and often weakness of the distal leg muscles (Emery, 2002). Approximately 10% of patients will experience transient gastrocnemius hypertrophy and pain, which subsequently resolves (Zatz et al., 2000). Patients with LGMD2B develop a unique gait, consisting of swaying and an inability to lift the heels off the ground. Confinement to a wheelchair may occur, on average 10-30 years after disease onset (Zatz et al., 2000). The combination of sudden onset, elevated serum creatine kinase, and frequent inflammatory component in biopsies means that patients are often misdiagnosed as having polymyositis, after patients fail to respond to steroids the diagnosis... half of the paper... repair. Current Opinion in Cell Biology, 19, 409–416Lo HP, Cooper ST, Evesson FJ, Seto JT (2008) Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders, 18, 34–44. Poguea R, Andersona LV, Pyleb A, Sewryc C (2001) Strategy for mutation analysis in autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders, 11, 80-87.Straub V, Bushby K (2006) The limb-girdle muscular dystrophies of childhood. Seminars in Pediatric Neurology, 13, 104-114. Zatz M, Vainzof M, Passos-Bueno MR (2000) Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes. Current Opinion in Neurology, 13, 511-517. Zatz M, de Paula F, Starling A, Vainzof M (2003) The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular disorders, 13, 532–544.