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30 Possible Causes for Creatine Kinase Normal or Increased, Highly Variable Severity of Muscle Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov] Histological features included basophilic-rimmed vacuoles, but the typical OPMD intranuclear filaments were absent.[ncbi.nlm.nih.gov]

  • Distal Myopathy Type 3

    The severity and disease course is highly variable, but individuals usually present in infancy or early childhood.[mayomedicallaboratories.com] Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[orpha.net]

  • Limb-Girdle Muscular Dystrophy Type 1E

    The clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD.[blueprintgenetics.com] 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]

  • Polyglucosan Body Myopathy Type 2

    The severity and disease course is highly variable, but individuals usually present in infancy or early childhood.[mayomedicallaboratories.com] ; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy" .[en.wikipedia.org] 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]

  • Hyaline Body Myopathy

    Despite similar histological findings, the clinical severity and age of onset are highly variable, ranging from no weakness to severe impairment of ambulation, and usually[gu.se] 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]

  • Facioscapulohumeral Muscular Dystrophy

    Disease onset as well as severity and progression is highly variable between individuals with FSHD.[lumc.nl] Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies,[ncbi.nlm.nih.gov] Creatine kinase was slightly increased, electromyogram and muscle biopsy were myopathic.[ncbi.nlm.nih.gov]

  • Batten-Turner Congenital Myopathy

    The clinical presentation of NM, including age of onset and severity of symptoms, is highly variable, and six clinical categories have been defined.[invitae.com] Askanas V, Serratrice G, King Engel W.), Cambridge 1998 Research Grants & Projects myopathy with rimmed-vacuole formation. adult onset nemaline myopathy[researchmap.jp] Respiratory failure is the most common cause of death in these patients.6,10,32 Creatine kinase levels are normal to mildly elevated and electromyography discloses a myopathic[the-medical-dictionary.com]

  • Congenital Muscular Dystrophy

    The clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD.[blueprintgenetics.com] Serum creatine kinase is usually elevated and biopsied muscle fibers show dystrophic changes and increased variability in fiber size with vacuolization.[disorders.eyes.arizona.edu] Laboratory studies may show that serum creatine kinase concentrations are normal or mildly increased.[orpha.net]

  • Myopathy and Diabetes mellitus

    The condition was highly variable with respect to the severity, range and onset of symptoms.[checkorphan.org] The concurrent degenerative features include vacuolization, filamentous inclusions and intracellular accumulations of amyloid-beta-related molecules.[scienceopen.com] Patient 5 felt better and his serum creatine kinase level returned to normal when zidovudine was discontinued, but his strength did not increase substantially, and he died[nejm.org]

  • Myosin Storage Myopathy

    Despite similar histological findings, the clinical severity and age of onset are highly variable, ranging from no weakness to severe impairment of ambulation, and usually[ncbi.nlm.nih.gov] Darin NKyllerman MWahlström JMartinsson TOldfors A Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.[jamanetwork.com] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[orpha.net]

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