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    ABSTRACT: The National Lipid Association's Muscle Safety Expert Panel was charged with the duty of examining the definitions for statin-associated muscle adverse events, development of a clinical index to assess myalgia, and the use of diagnostic neuromuscular studies to investigate muscle adverse events. We provide guidance as to when a patient should be considered for referral to neuromuscular specialists and indications for the performance of a skeletal muscle biopsy. Based on this review of evidence, we developed an algorithm for the evaluation and treatment of patients who may be intolerant to statins as the result of adverse muscle events. The panel was composed of clinical cardiologists, clinical lipidologists, an exercise physiologist, and a neuromuscular specialist.
    Journal of Clinical Lipidology 05/2014; 8(3 Suppl):S58-71. DOI:10.1016/j.jacl.2014.03.004 · 3.59 Impact Factor
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    ABSTRACT: Mitochondrial cytopathies ultimately lead to a reduction in aerobic energy transduction, depletion of alternative energy stores, increased oxidative stress, apoptosis and necrosis. Specific combinations of nutraceutical compounds can target many of the aforementioned biochemical pathways. Antioxidants combined with cofactors that can bypass specific electron transport chain defects and the provision of alternative energy sources represents a specific targeted strategy. To date, there has been only one randomized double-blind clinical trial using a combination nutraceutial therapy and it showed that the combination of creatine monohydrate, coenzyme Q10, and alpha-lipoic acid reduced lactate and markers of oxidative stress in patients with mitochondrial cytopathies. Future studies need to use larger numbers of patients with well defined clinical and surrogate marker outcomes to clarify the potential role for combination nutraceuticals ("mitochondrial cocktail") as a therapy for mitochondrial cytopathies.
    Advanced drug delivery reviews 10/2008; 60(13-14):1561-7. DOI:10.1016/j.addr.2008.05.001 · 12.71 Impact Factor
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    ABSTRACT: Metabolic myopathies are inborn errors of metabolism that result in impaired energy production due to defects in glycogen, lipid, mitochondrial, and possibly adenine nucleotide metabolism. Fatty acid oxidation defects (FAOD), glycogen storage disease, and mitochondrial myopathies represent the 3 main groups of disorders, and some consider myoadenylate deaminase (AMPD1 deficiency) to be a metabolic myopathy. Clinically, a variety of neuromuscular presentations are seen at different ages of life. Newborns and infants commonly present with hypotonia and multisystem involvement (liver and brain), whereas onset later in life usually presents with exercise intolerance with or without progressive muscle weakness and myoglobinuria. In general, the glycogen storage diseases result in high-intensity exercise intolerance, whereas the FAODs and the mitochondrial myopathies manifest predominately during endurance-type activity or under fasted or other metabolically stressful conditions. The clinical examination is often normal, and testing requires various combinations of exercise stress testing, serum creatine kinase activity and lactate concentration determination, urine organic acids, muscle biopsy, neuroimaging, and specific genetic testing for the diagnosis of a specific metabolic myopathy. Prenatal screening is available in many countries for several of the FAODs through liquid chromatography-tandem mass spectrometry. Early identification of these conditions with lifestyle measures, nutritional intervention, and cofactor treatment is important to prevent or delay the onset of muscle weakness and to avoid potential life-threatening complications such as rhabdomyolysis with resultant renal failure or hepatic failure. This article will review the key clinical features, diagnostic tests, and treatment recommendations for the more common metabolic myopathies, with an emphasis on mitochondrial myopathies.
    Journal of clinical neuromuscular disease 04/2009; 10(3):97-121. DOI:10.1097/CND.0b013e3181903126
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