• Nirupa J Patel, Kenneth W Van Dyke, and Luis R Espinoza.
• Division of Rheumatology, Louisiana State University Health Science Center, New Orleans, Louisiana. Electronic address: npate5@lsuhsc.edu.
• Am. J. Med. Sci. 2017 May 1; 353 (5): 484-491.

AbstractWe report the following 2 subtypes of progressive limb-girdle dystrophy type 2B: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi. The first patient described had weakness in the anterior thigh muscles (LGMD2B) and the second patient had calf muscle weakness and atrophy (Miyoshi). Literature review was performed and LGMD2B was compared and distinguished from other myopathies of similar nature. Genetic testing with polymerase chain reaction analysis of the DYSF gene confirmed the diagnosis in both patients. Additional findings of histopathology, specific stain for sarcolemmal membrane protein, Western blot analysis and clinical presentation clinched the diagnosis further of dysferlinopathy (LGMD2B) in both our patients. Currently, there is no definitive treatment on the horizon and immunosuppressive therapy is not recommended for this condition. Gene therapy may have a future role, but at present, muscle-strengthening exercises and patient awareness are the mainstays.Copyright © 2017 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

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