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139 Possible Causes for Creatine Kinase Normal or Increased, Myopathy, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] A descriptive term, "oculopharyngodistal myopathy," was proposed to separate the present illness from other ocular myopathies.[ncbi.nlm.nih.gov] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov]

  • Inclusion Body Myositis

    The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.[ncbi.nlm.nih.gov] Labs including CBC, CMP, ANA, ESR, CRP, and TSH were normal. Serum creatine kinase was 6,500.[n.neurology.org] The comorbidity of inclusion body myositis and sarcoid myopathy is rare.[ncbi.nlm.nih.gov]

  • Distal Myopathy Type 3

    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] Elsevier Health Sciences, 23.07.2014 - 14 Seiten Congential myopathies, Muscular dystropies, Glycogen storage diseases of muscle, and Idiopathic and Inflammatory myopathies[books.google.de]

  • Limb-Girdle Muscular Dystrophy

    […] pathology Vacuoles/ultrastructure Substances Chromatin LMNA protein, human Lamin Type A MyoD Protein MyoD1 myogenic differentiation protein PAX7 Transcription Factor PAX7[ncbi.nlm.nih.gov] Patients with congenital and mitochondrial myopathies usually present normal creatine kinase levels, and frequent ptosis.[doi.org] For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possible differential diagnoses for necrotizing myopathy.[ncbi.nlm.nih.gov]

  • Sarcotubular Myopathy

    The vacuoles are similar to those described in sarcotubular myopathy. TRIM32 sequencing revealed the common c.1459G A mutation at homozygosity.[ncbi.nlm.nih.gov] Asymptomatic individuals may also present with a high creatine kinase (CK) level or malignant hyperthermia.[slideshare.net] Myriad small spaces appeared in abnormal fibers in the transverse sections, while in longitudinal sections the vacuolation was segmental in distribution.[mayoclinic.pure.elsevier.com]

  • 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]

  • Secondary Myopathy

    Sensorimotor neuropathy Hypothyroid (amiodarone) Elevated serum CK EMG: fibs, PSWs, myotonia (choroquine), myopathic MUAPs NCS: axonal sensorimotor neuropathy Autophagic vacuoles[neurology.mhmedical.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] We present a family with a distal myopathy secondary to a mutation in myotilin.[eprints.soton.ac.uk]

  • 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] Acquired myopathies can be subclassified as inflammatory myopathies, toxic myopathies, and myopathies associated with systemic conditions.[clevelandclinicmeded.com]

  • Limb-Girdle Muscular Dystrophy Type 1G

    […] membrane in the vacuoles.[doi.org] E-2529 149 Metabolic Myopathies E-2547 150 Inflammatory Myopathies E-2595 151 Channelopathies E-2605 152 Management of Children with Neuromuscular Disorders E-2626 153 Endocrine[books.google.com] DIAGNOSTIC SPECTRUM Muscular Dystrophies Congenital Muscular Dystrophies Congenital Myopathies Distal Myopathies Metabolic Myopathies Other Myopathies HyperCKemias Myotonic[meduniwien.ac.at]

  • Polyglucosan Body Myopathy Type 2

    ; 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] Glycogenin-1 (GYG1) gene mutations in a family with polyglucosan body myopathy. Neurol Genet. 2015;1(3):e21.[link.springer.com]

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