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The metabolic myopathies are a group of disorders characterized by impaired energy production in muscle that results from inherited defects in glycogen, lipid, or mitochondrial metabolism. Although onset in the neonatal period and during infancy is typical of many of these disorders, others may present for the first time during adolescence of adulthood. The typical presentation in adolescence or adulthood is with either (1) dynamic (i.e., fluctuating) symptoms like myoglobinuria and muscle weakness related to exercise that resolve completely, or (2) static (present all the time) symptoms such as slowly progressive muscle weakness. The gold standard for the diagnosis of these disorders usually relies on biochemical analysis of a muscle biopsy specimen with demonstration of the specific enzymatic defect. Such testing, however, is not part of the routine evaluation of every muscle biopsy, and because biochemical evaluation of muscle requires special preparation of the tissue sample at the time of biopsy, it cannot be requested post hoc. The diagnosis of a metabolic myopathy, therefore, requires a high index of clinical suspicion so that the appropriate testing can be arranged at the time of muscle biopsy. What are the typical presentations of the adult-onset metabolic myopathies? And what is the utility of more readily available investigations such as serum creatine kinase (CK), electromyography (EMG), and the forearm exercise test in ranking the likelihood of the presence or absence of a metabolic myopathy? Questions such as these, relating to the diagnosis of metabolic myopathy, form the bulk of this chapter, although some attention is also paid to the role of therapeutic interventions such as dietary modifications (e.g., lowcarbohydrate or low-fat diets) as well as supplements like creatine and coenzyme Q10.

The metabolic myopathies are a group of disorders characterized by impaired energy production in muscle that results from inherited defects in glycogen, lipid, or mitochondrial metabolism. Although onset in the neonatal period and during infancy is typical of many of these disorders, others may present for the first time during adolescence of adulthood. The typical presentation in adolescence or adulthood is with either (1) dynamic (i.e., fluctuating) symptoms like myoglobinuria and muscle weakness related to exercise that resolve completely, or (2) static (present all the time) symptoms such as slowly progressive muscle weakness. The gold standard for the diagnosis of these disorders usually relies on biochemical analysis of a muscle biopsy specimen with demonstration of the specific enzymatic defect. Such testing, however, is not part of the routine evaluation of every muscle biopsy, and because biochemical evaluation of muscle requires special preparation of the tissue sample at the time of biopsy, it cannot be requested post hoc. The diagnosis of a metabolic myopathy, therefore, requires a high index of clinical suspicion so that the appropriate testing can be arranged at the time of muscle biopsy. What are the typical presentations of the adult-onset metabolic myopathies? And what is the utility of more readily available investigations such as serum creatine kinase (CK), electromyography (EMG), and the forearm exercise test in ranking the likelihood of the presence or absence of a metabolic myopathy? Questions such as these, relating to the diagnosis of metabolic myopathy, form the bulk of this chapter, although some attention is also paid to the role of therapeutic interventions such as dietary modifications (e.g., lowcarbohydrate or low-fat diets) as well as supplements like creatine and coenzyme Q10.

The metabolic myopathies are a group of disorders characterized by impaired energy production in muscle that results from inherited defects in glycogen, lipid, or mitochondrial metabolism. Although onset in the neonatal period and during infancy is typical of many of these disorders, others may present for the first time during adolescence of adulthood. The typical presentation in adolescence or adulthood is with either (1) dynamic (i.e., fluctuating) symptoms like myoglobinuria and muscle weakness related to exercise that resolve completely, or (2) static (present all the time) symptoms such as slowly progressive muscle weakness. The gold standard for the diagnosis of these disorders usually relies on biochemical analysis of a muscle biopsy specimen with demonstration of the specific enzymatic defect. Such testing, however, is not part of the routine evaluation of every muscle biopsy, and because biochemical evaluation of muscle requires special preparation of the tissue sample at the time of biopsy, it cannot be requested post hoc. The diagnosis of a metabolic myopathy, therefore, requires a high index of clinical suspicion so that the appropriate testing can be arranged at the time of muscle biopsy. What are the typical presentations of the adult-onset metabolic myopathies? And what is the utility of more readily available investigations such as serum creatine kinase (CK), electromyography (EMG), and the forearm exercise test in ranking the likelihood of the presence or absence of a metabolic myopathy? Questions such as these, relating to the diagnosis of metabolic myopathy, form the bulk of this chapter, although some attention is also paid to the role of therapeutic interventions such as dietary modifications (e.g., lowcarbohydrate or low-fat diets) as well as supplements like creatine and coenzyme Q10.

The metabolic myopathies are a group of disorders characterized by impaired energy production in muscle that results from inherited defects in glycogen, lipid, or mitochondrial metabolism. Although onset in the neonatal period and during infancy is typical of many of these disorders, others may present for the first time during adolescence of adulthood. The typical presentation in adolescence or adulthood is with either (1) dynamic (i.e., fluctuating) symptoms like myoglobinuria and muscle weakness related to exercise that resolve completely, or (2) static (present all the time) symptoms such as slowly progressive muscle weakness. The gold standard for the diagnosis of these disorders usually relies on biochemical analysis of a muscle biopsy specimen with demonstration of the specific enzymatic defect. Such testing, however, is not part of the routine evaluation of every muscle biopsy, and because biochemical evaluation of muscle requires special preparation of the tissue sample at the time of biopsy, it cannot be requested post hoc. The diagnosis of a metabolic myopathy, therefore, requires a high index of clinical suspicion so that the appropriate testing can be arranged at the time of muscle biopsy. What are the typical presentations of the adult-onset metabolic myopathies? And what is the utility of more readily available investigations such as serum creatine kinase (CK), electromyography (EMG), and the forearm exercise test in ranking the likelihood of the presence or absence of a metabolic myopathy? Questions such as these, relating to the diagnosis of metabolic myopathy, form the bulk of this chapter, although some attention is also paid to the role of therapeutic interventions such as dietary modifications (e.g., lowcarbohydrate or low-fat diets) as well as supplements like creatine and coenzyme Q10.

The metabolic myopathies are a group of disorders characterized by impaired energy production in muscle that results from inherited defects in glycogen, lipid, or mitochondrial metabolism. Although onset in the neonatal period and during infancy is typical of many of these disorders, others may present for the first time during adolescence of adulthood. The typical presentation in adolescence or adulthood is with either (1) dynamic (i.e., fluctuating) symptoms like myoglobinuria and muscle weakness related to exercise that resolve completely, or (2) static (present all the time) symptoms such as slowly progressive muscle weakness. The gold standard for the diagnosis of these disorders usually relies on biochemical analysis of a muscle biopsy specimen with demonstration of the specific enzymatic defect. Such testing, however, is not part of the routine evaluation of every muscle biopsy, and because biochemical evaluation of muscle requires special preparation of the tissue sample at the time of biopsy, it cannot be requested post hoc. The diagnosis of a metabolic myopathy, therefore, requires a high index of clinical suspicion so that the appropriate testing can be arranged at the time of muscle biopsy. What are the typical presentations of the adult-onset metabolic myopathies? And what is the utility of more readily available investigations such as serum creatine kinase (CK), electromyography (EMG), and the forearm exercise test in ranking the likelihood of the presence or absence of a metabolic myopathy? Questions such as these, relating to the diagnosis of metabolic myopathy, form the bulk of this chapter, although some attention is also paid to the role of therapeutic interventions such as dietary modifications (e.g., lowcarbohydrate or low-fat diets) as well as supplements like creatine and coenzyme Q10.

The metabolic myopathies are a group of disorders characterized by impaired energy production in muscle that results from inherited defects in glycogen, lipid, or mitochondrial metabolism. Although onset in the neonatal period and during infancy is typical of many of these disorders, others may present for the first time during adolescence of adulthood. The typical presentation in adolescence or adulthood is with either (1) dynamic (i.e., fluctuating) symptoms like myoglobinuria and muscle weakness related to exercise that resolve completely, or (2) static (present all the time) symptoms such as slowly progressive muscle weakness. The gold standard for the diagnosis of these disorders usually relies on biochemical analysis of a muscle biopsy specimen with demonstration of the specific enzymatic defect. Such testing, however, is not part of the routine evaluation of every muscle biopsy, and because biochemical evaluation of muscle requires special preparation of the tissue sample at the time of biopsy, it cannot be requested post hoc. The diagnosis of a metabolic myopathy, therefore, requires a high index of clinical suspicion so that the appropriate testing can be arranged at the time of muscle biopsy. What are the typical presentations of the adult-onset metabolic myopathies? And what is the utility of more readily available investigations such as serum creatine kinase (CK), electromyography (EMG), and the forearm exercise test in ranking the likelihood of the presence or absence of a metabolic myopathy? Questions such as these, relating to the diagnosis of metabolic myopathy, form the bulk of this chapter, although some attention is also paid to the role of therapeutic interventions such as dietary modifications (e.g., lowcarbohydrate or low-fat diets) as well as supplements like creatine and coenzyme Q10.

The metabolic myopathies are a group of disorders characterized by impaired energy production in muscle that results from inherited defects in glycogen, lipid, or mitochondrial metabolism. Although onset in the neonatal period and during infancy is typical of many of these disorders, others may present for the first time during adolescence of adulthood. The typical presentation in adolescence or adulthood is with either (1) dynamic (i.e., fluctuating) symptoms like myoglobinuria and muscle weakness related to exercise that resolve completely, or (2) static (present all the time) symptoms such as slowly progressive muscle weakness. The gold standard for the diagnosis of these disorders usually relies on biochemical analysis of a muscle biopsy specimen with demonstration of the specific enzymatic defect. Such testing, however, is not part of the routine evaluation of every muscle biopsy, and because biochemical evaluation of muscle requires special preparation of the tissue sample at the time of biopsy, it cannot be requested post hoc. The diagnosis of a metabolic myopathy, therefore, requires a high index of clinical suspicion so that the appropriate testing can be arranged at the time of muscle biopsy. What are the typical presentations of the adult-onset metabolic myopathies? And what is the utility of more readily available investigations such as serum creatine kinase (CK), electromyography (EMG), and the forearm exercise test in ranking the likelihood of the presence or absence of a metabolic myopathy? Questions such as these, relating to the diagnosis of metabolic myopathy, form the bulk of this chapter, although some attention is also paid to the role of therapeutic interventions such as dietary modifications (e.g., lowcarbohydrate or low-fat diets) as well as supplements like creatine and coenzyme Q10.