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52 Possible Causes for Increased Serum Creatine Phosphate, Vacuolization

  • Danon Disease

    […] clusters of autophagic vacuoles, indicative of autolysosomes.[ncbi.nlm.nih.gov] However, the first muscle biopsy with large cytoplasmic vacuoles confused the diagnosis and led to the second biopsy that allowed for the final diagnosis.[ncbi.nlm.nih.gov] Two patients underwent heart transplantation; histology of explanted hearts demonstrated severe interstitial fibrosis, hypertrophic cardiomyocytes with cytoplasmic vacuoles[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 2G

    Frequent rimmed vacuoles were observed.[bmcclinpathol.biomedcentral.com] Muscle biopsy shows a dystrophic pattern, including rimmed vacuoles.[link.springer.com] Rimmed vacuoles.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 2

    At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[ncbi.nlm.nih.gov] Since these vacuoles are present in the skin of affected persons, one can search for them in amniotic-fluid cells and know within days of amniocentesis whether a fetus at[nejm.org] Muscle biopsy at 11 months of age revealed multiple, small, punctuate vacuoles in most myocytes; electron microscopy and special stain suggested that the vacuoles contained[doi.org]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Pathologic findings in one of the patients showed rimmed vacuoles.[ncbi.nlm.nih.gov] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.org] License: CC BY-SA 3.0 On histological investigation, ringed vacuoles and intranuclear inclusion are seen. There is no known therapy.[lecturio.com]

  • 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]

  • Limb-Girdle Muscular Dystrophy Type 1H

    While young patients show minor pathological changes in muscle, the middle-aged and old patients show rimmed vacuoles and inclusions of filaments measuring 15–18 nm in diameter[scinapse.io] Myopathic changes with vacuoles were present in muscle on light and electron mi- croscopic examination.[myslide.es] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions (summary by Melia et al., 2013 ).For a phenotypic description and[mendelian.co]

  • 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] Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.[ghr.nlm.nih.gov] ; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy".[en.wikipedia.org]

  • 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] Careful monitoring of the serum creatine kinase and phosphate levels is essential. Intravenous fluids, furosemide, and hemodialysis are sometimes required.[clinicalgate.com] The muscle contains vacuoles filled with glycoprotein (arrow) Fig. 27. McArdles disease.[rrnursingschool.biz]

  • Muscular Dystrophy-Dystroglycanopathy Type C3

    License: CC BY-SA 3.0 On histological investigation, ringed vacuoles and intranuclear inclusion are seen. There is no known therapy.[lecturio.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] Dysphagia (20%) LGMD1E DES/Desmin Adulthood Mild to moderately elevated Slow Proximal weakness; Calf hypertrophy; Rimmed vacuoles Cardiomyopathy; Arrhythmia; Respiratory[now.aapmr.org]

  • Muscular Dystrophy-Dystroglycanopathy Type C1

    Muscle biopsy: Similar to Duchenne muscular dystrophy Cytoplasmic changes may occur: split fibres, whorls, moth eaten fibres, lobulated fibres Hints to subtypes: GMT, Rimmed vacuoles[learningneurology.com] Rimmed vacuoles are consistently but not invariably seen in histology GNE myopathy patients.[annalsofian.org] Nonaka I, Noguchi S, Nishino I (2005) Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.[link.springer.com]

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