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23 Possible Causes for Creatine Kinase Normal or Increased, Increased Serum Creatine Phosphate, Vacuolization

  • Limb-Girdle Muscular Dystrophy Type 1E

    Pathologic findings in one of the patients showed rimmed vacuoles.[ncbi.nlm.nih.gov] kinase normal-to-moderate increase Genetic testing gold standard Slit-lamp examination to evaluate for cataracts classically posterior subcapsular cataracts Electrocardiogram[medbullets.com] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.org]

  • Glycogen Storage Disease Type 2

    At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[ncbi.nlm.nih.gov] Laboratory results are significant for an elevated creatine kinase level of 1,423 U/L (normal 200 U/L). There was no increase of lactate on forearm nonischemic testing.[medbullets.com] Creatine kinase levels are often elevated and in young patients, it is not uncommon to measure increased serum concentrations of hepatic enzymes.[symptoma.com]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G

    […] membrane in the vacuoles.[doi.org] Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles.[mendelian.co] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.org]

  • Hyaline Body Myopathy

    Enzyme histochemistry or immunostaining for these sarcolemmal proteins demonstrate strikingly numerous cytoplasmic vacuoles in Danon disease and X-linked myopathy with excessive[basicmedicalkey.com] In those with CCD, blood studies typically reveal normal or slightly increased levels of the enzyme creatine kinase in the fluid portion of the blood (except during a malignant[rarediseases.org] Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.[ghr.nlm.nih.gov]

  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    […] recurrent episodes after exercise Treatment: Low carbohydrate diet; Regular exercise Skeletal muscle Abnormal glycogen accumulation: Coarse granular, Amylase-resistant, Cytoplasmic[neuromuscular.wustl.edu] […] serum creatine kinase after statin treatment (see {311870.0004}), but no other symptoms.[bio2rdf.org] Careful monitoring of the serum creatine kinase and phosphate levels is essential. Intravenous fluids, furosemide, and hemodialysis are sometimes required.[clinicalgate.com]

  • Glycogen Storage Disease Type 3

    […] hepatomegaly hepatic fibrosis glycogen hepatocytic overload rarefied cytoplasm pyknotic anc eccentrically-located nuclei mosaic appearance hepatocytic steaosis hepatocyte vacuolation[humpath.com] Serum transaminase concentrations are increased; creatine kinase levels are normal. The liver typically is markedly enlarged causing a protuberant abdomen.[clinicaladvisor.com] Liver histology with hematoxylin-eosin stained reaction showed hepatocytes with vacuolated cytoplasm and central nuclei ( Fig. 1 ).[indianpediatrics.net]

  • Muscular Dystrophy-Dystroglycanopathy Type C2

    License: CC BY-SA 3.0 On histological investigation, ringed vacuoles and intranuclear inclusion are seen. There is no known therapy.[lecturio.com] Of the few patients so far reported, one had onset at 18 months, achieved walking, and had increased serum creatine kinase, muscle hypertrophy, low IQ, and right bundle branch[link.springer.com] […] syndrome (WWS) caused by a mutation in the POMT1 gene. ( 15792865 ) Balci B....Topaloglu H. 2005 8 Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles[malacards.org]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    […] recurrent episodes after exercise Treatment: Low carbohydrate diet; Regular exercise Skeletal muscle Abnormal glycogen accumulation: Coarse granular, Amylase-resistant, Cytoplasmic[neuromuscular.wustl.edu] Serum transaminase concentrations are increased; creatine kinase levels are normal. The liver typically is markedly enlarged causing a protuberant abdomen.[clinicaladvisor.com] The vacuoles also stain intensely to acid phosphates, confirming that the vacuoles filled with glycogen are secondary lysosomes.[annalsofneurosciences.org]

  • Glycogen Storage Disease due to Muscle Beta-Enolase Deficiency

    […] recurrent episodes after exercise Treatment: Low carbohydrate diet; Regular exercise Skeletal muscle Abnormal glycogen accumulation: Coarse granular, Amylase-resistant, Cytoplasmic[neuromuscular.wustl.edu] Serum creatine kinase levels are usually normal or minimally increased in the periodic paralyses and myotonic disorders.[clinicalgate.com] normal.  Elevated levels of serum creatine kinase (CK) and aldolase suggest muscle involvement, but normal values do not exclude the future development of myopathy. 22.[slideshare.net]

  • Vacuolar Neuromyopathy

    On biopsy, there was a lipid storage myopathy, lipid containing vacuoles in leukocytes, and vacuoles in Schwann cells.[mayoclinic.pure.elsevier.com] In statin myopathies, the creatine kinase (CK) level may be normal or there may be asymptomatic CK increases. 8 With continued exposure to the toxin, the patient may develop[now.aapmr.org] Careful monitoring of the serum creatine kinase and phosphate levels is essential. Intravenous fluids, furosemide, and hemodialysis are sometimes required.[clinicalgate.com]

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