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Muscular Dystrophy

“Muscular dystrophy” refers to a large group of clinically diverse genetic diseases that lead to deterioration of muscle structure and function over time (Mercuri 2013). While weakness and functional decline in peripheral muscles, such as those of the arms and legs, are common in muscular dystrophies, function of the heart muscle (myocardium) can be affected as well, a condition called cardiomyopathy. Respiratory failure is also common in late-stage muscular dystrophy and represents a frequent cause of death (Mayo Clinic 2012). In some forms of muscular dystrophy, weakness may be evident at birth or during childhood, while in other forms signs and symptoms of progressive weakness do not emerge until later in adulthood (Amato 2011).

As research continues to identify the particular genes associated with the various types of muscular dystrophy, the medical community is transitioning from a classic characterization system based on physical symptoms (such as the pattern of muscle weakness) to a system based on the detection of mutations in specific genes. In addition to diagnosis, treatment methods are evolving along with the increased understanding of the genetic background of muscular dystrophies. The hope is that new therapies can be designed to target the underlying biology of these devastating diseases (Amato 2011; Mayo Clinic 2012; Chatterjee 2003).

Currently, no cure is available for muscular dystrophy. However, corticosteroid medications may help delay onset of certain symptoms and increase muscle strength in some patients (Beytía 2012). Also, a variety of interventions, such as physical therapy and speech therapy, can help delay some aspects of functional decline for individuals with muscular dystrophy.

Several natural interventions, such as coenzyme Q10 and creatine, may complement conventional treatment modalities and enhance quality of life for muscular dystrophy patients. For instance, creatine, a natural compound found in muscle tissue, has been studied in the context of neuromuscular disorders for nearly 20 years, with several human clinical trials of creatine supplementation showing benefit in neuromuscular diseases (Chung 2007; Klopstock 2000; Louis 2003). Moreover, breakthroughs in genetic technologies continue to inch us closer to a method of overcoming challenges that have historically made muscular dystrophies so daunting. For example, a cutting-edge technology called exon skipping, which allows scientists to “bypass” defective regions in genes, is currently making its way from the bench to the bedside via clinical trials (Aartsma-Rus 2012; Walter 2007; Muir 2009; Nelson 2009; Beytía 2012; Malik 2012; Trollet 2009). It is hoped that within the not-to-distant future, innovations in technology will deliver effective treatments for the muscular dystrophies.

This protocol will outline some of the basic features of the various types of muscular dystrophies, and touch on the growing knowledge about the genetics underlying these complex diseases. The diagnosis and conventional treatment of muscular dystrophies will be discussed, as will some emerging therapeutic strategies that may one day improve outlook for patients with these diseases. Finally, several important dietary and lifestyle considerations will be discussed, and a number of scientifically evaluated natural therapies will also be reviewed.