Exercise‐induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

Oh, Shin J.; Park, Kyung-Seok; Ryan, Hewitt F.; Danon, Moris J.; Lu, Jiesheng; Naini, Ali; DiMauro, Salvatore

doi:10.1002/mus.20622

Cited by 32 publications

(24 citation statements)

References 13 publications

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“…Muscle biopsy can show increased glycogen content with PAS positive subsarcolemmal vacuoles, or it can be normal. Tubular aggregates are sometimes seen on muscle biopsy 139, 141 .…”

Section: Genetic Causes Of Rhabdomyolysismentioning

confidence: 99%

Diagnostic evaluation of rhabdomyolysis

2015

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Rhabdomyolysis is characterized by severe acute muscle injury resulting in muscle pain, weakness, and/or swelling with release of myofiber contents into the bloodstream. Symptoms develop over hours to days following an inciting factor and may be associated with dark pigmentation of the urine. Serum creatine kinase and urine myoglobin levels are markedly elevated. The clinical examination, history, laboratory studies, muscle biopsy, and genetic testing are useful tools for diagnosis of rhabdomyolysis, and they can help differentiate acquired from inherited causes of rhabdomyolysis. Acquired causes include substance abuse, medication or toxic exposures, electrolyte abnormalities, endocrine disturbance, and autoimmune myopathies. Inherited predisposition to rhabdomyolysis can occur with disorders of glycogen metabolism, fatty acid beta-oxidation, and mitochondrial oxidative phosphorylation. Less common inherited causes of rhabdomyolysis include structural myopathies, channelopathies, and sickle cell disease. This review focuses on the differentiation of acquired and inherited causes of rhabdomyolysis and proposes a practical diagnostic algorithm.

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“…Muscle biopsy can show increased glycogen content with PAS positive subsarcolemmal vacuoles, or it can be normal. Tubular aggregates are sometimes seen on muscle biopsy 139, 141 .…”

Section: Genetic Causes Of Rhabdomyolysismentioning

confidence: 99%

Diagnostic evaluation of rhabdomyolysis

2015

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“…6 Tubular aggregates have also been reported in patients diagnosed with inflammatory myopathy 7 and myotonia congenital. 6 Tubular aggregates have also been reported in patients diagnosed with inflammatory myopathy 7 and myotonia congenital.…”

Section: Discussionmentioning

confidence: 97%

Neuromuscular Pathology Case

Plowey¹,

Mohan²,

Lacomis³

2012

Journal of Clinical Neuromuscular Disease

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A 58-year-old man was evaluated for 5 years of arthralgias and myalgias located in the upper and lower extremities, especially in the hands, feet, calves, and knees. These symptoms were worse at night or with physical activity. The patient denied weakness, paresthesias, craniobulbar symptoms, and episodes of myoglobinuria. He had been on a statin for the previous 7 years; it was discontinued at the time of presentation resulting in approximately a 30% improvement in pain. Other medical history included hypertension, hypercholesterolemia, a remote history of alcohol and cocaine abuse (10 years prior), psoriasis, and depression. There was no known history of muscle pain in his six living and two deceased siblings or in his deceased parents. Physical examination revealed diffuse tender points, normal strength and sensation, and normal gait, stance, and tendon reflexes.Over the previous 6 months, laboratory studies demonstrated persistent elevations in serum creatine kinase (range, 531-1101 IU/L; normal, 0-200 IU/L) and mild elevations in aldolase. Erythrocyte sedimentation rate, C-reactive protein, antinuclear antibody, rheumatoid factor, anti-Jo-1 antibody, anticyclic citrullinated peptide, anti-UN1RNP, and RNA polymerase III were in the normal range. No monoclonal proteins were detected by serum protein electrophoresis.Electrodiagnostic testing revealed normal nerve conductions in an arm and leg, and needle electromyography demonstrated showed shortduration, low-amplitude motor unit potentials only in a thoracic paraspinal and vastus lateralis muscles. Motor unit potentials in nine other arm and leg muscles were normal. There were no fibrillation potentials or other spontaneous discharges. A needle biopsy of the right vastus lateralis muscle was performed (Fig. 1). FIGURE 1. Muscle biopsy frozen sections stained with hematoxylin and eosin (A) and Gomori trichrome (B) (magnification 4003; calibration bar = 50 mms) See description in text.

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“…The forearm exercise test usually yields a mild but de fi nite rise in lactate level of 1.3-3 times baseline [43][44][45][46][47] . Although this response is less than the four-to sixfold rise in lactate seen in normal subjects, it is distinct from the essentially fl at response seen in patients with myophosphorylase, phosphofructokinase, or phosphoglycerate kinase de fi ciencies.…”

Section: Phosphoglycerate Mutase De Fi Ciencymentioning

confidence: 99%