2018
DOI: 10.1212/wnl.0000000000005867
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Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure

Abstract: Few forms of severe genetic myopathies can successfully be treated, although multiple acyl-CoA dehydrogenase deficiency (MADD) is highly responsive to riboflavin supplementation. c Muscle MRI and muscle biopsy play important roles in patients with exercise intolerance and dyspnea when metabolic myopathy is suspected. Oysters c EMG and serum creatine kinase (CK) levels may be normal in metabolic myopathies. Muscle biopsy may be the only abnormal ancillary examination. c MADD must be considered in cases of rapid… Show more

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Cited by 5 publications
(2 citation statements)
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“…The magnitude of CK elevation generally directly correlates with the number of necrotic fibers [6, 7]. CK level can be normal in myopathies without prominent necrotizing pathology, for example congenital myopathies or metabolic myopathies [8, 9]. Immune‐mediated myopathies generally feature a significant degree of necrotic fibers and CK elevation; however, a proportion of patients with dermatomyositis, inflammatory myopathy or polymyositis, inflammatory myopathy with perimysial pathology, scleroderma myopathy and eosinophilic fasciitis can have normal serum CK levels with elevated aldolase levels [10–17].…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…The magnitude of CK elevation generally directly correlates with the number of necrotic fibers [6, 7]. CK level can be normal in myopathies without prominent necrotizing pathology, for example congenital myopathies or metabolic myopathies [8, 9]. Immune‐mediated myopathies generally feature a significant degree of necrotic fibers and CK elevation; however, a proportion of patients with dermatomyositis, inflammatory myopathy or polymyositis, inflammatory myopathy with perimysial pathology, scleroderma myopathy and eosinophilic fasciitis can have normal serum CK levels with elevated aldolase levels [10–17].…”
Section: Introductionmentioning
confidence: 99%
“…The magnitude of CK elevation generally directly correlates with the number of necrotic fibers [6,7]. CK level can be normal in myopathies without prominent necrotizing pathology, for example congenital myopathies or metabolic myopathies [8,9].…”
Section: Introductionmentioning
confidence: 99%