Limb-girdle muscular dystrophy (LGMD) type 2D is characterized by skeletal muscle weakness and results from mutations occurring in the alpha-sarcoglycan gene. Localized in the sarcolemma, the sarcoglycans (alpha, beta, gamma, delta) are a subcomplex of the dystrophin-associated proteins (DAP). Alpha-sarcoglycan (alpha-SG) deficiency is the most common form of sarcoglycan-LGMD and no therapeutic treatments are currently available. The alpha-SG mouse model provides an opportunity to test translational treatment approaches.

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The largest multicenter study, led by Dr. William J. Groh at the Indiana University School of Medicine, has identified risk factors that can lead to sudden death for adult patients with myotonic dystrophy type 1, the most common form of muscular dystrophies seen in adults. Over 10 years, neurologists and cardiologists assessed 406 adult patients, from 23 neuromuscular disease clinics in the United States, with genetically confirmed myotonic dystrophy type 1 using clinical history, genetic assessment and electrocardiograms (ECG) to determine the risk factors that cause arrhythmias and sudden cardiac death.

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There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter.

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