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3,432 Possible Causes for Creatine Kinase Normal or Increased, Ptosis Is Usually Presenting Feature, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Clinical Features Oculopharyngeal muscular dystrophy has a late onset; it usually presents in the fourth to sixth decade with ptosis and/or dysphagia.[clinicalgate.com] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[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] Table 2 Differential diagnosis of distal myopathies CREATINE KINASE The serum creatine kinase concentration may be helpful if it is increased but it may be normal or only[jnnp.bmj.com]

    Missing: Ptosis Is Usually Presenting Feature
  • 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] Abstract OBJECTIVE: Sporadic inclusion body myositis (sIBM) pathogenesis is unknown; however, rimmed vacuoles (RVs) are a constant feature.[ncbi.nlm.nih.gov]

    Missing: Ptosis Is Usually Presenting Feature
  • Oculopharyngeal Muscular Dystrophy

    In contrast, patients with distal myopathy with rimmed vacuoles revealed many rimmed vacuoles, on average in 20% of the fibers, and their oculopharyngeal muscles were spared[ncbi.nlm.nih.gov] Early signs include ptosis, limb weakness and dysphagia. Symptoms usually begin after the age of 45 years, and ptosis is the most common presenting feature.[orpha.net] Innervated cultures had large cytoplasmic vacuoles in a number of muscle fibers.[ncbi.nlm.nih.gov]

    Missing: Creatine Kinase Normal or Increased
  • 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]

    Missing: Ptosis Is Usually Presenting Feature
  • 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] Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy[ncbi.nlm.nih.gov]

    Missing: Ptosis Is Usually Presenting Feature
  • Central Core Disease

    […] as NADH Centrally located accumulation of red to purple, rod-like inclusions within skeletal muscle fibers, visible with Gömöri trichrome stain Centrally placed, rimmed vacuole[pathologyoutlines.com] Serum creatine kinase (CK) activity is usually normal, but may be elevated up to 6 to 14 times normal in rare cases [ 11, 31, 32 ].[ojrd.com] Prominent facial weakness and ptosis are often present; associated findings may include dysmorphic features such as dolichocephaly, a long, narrow face, and a high-arched[uptodate.com]

  • 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]

    Missing: Ptosis Is Usually Presenting Feature
  • 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]

    Missing: Ptosis Is Usually Presenting Feature
  • Mitochondrial Neurogastrointestinal Encephalomyopathy

    Several regenerating fibers and some vacuolated fibers were also seen. B , Modified Gomori trichrome stain revealing abundant ragged red fibers and lipid droplets.[nature.com] Ptosis is commonly present as well. Systemic Features: This condition has been called a mitochondrial neurogastrointestinal encephalopathy (MNGIE).[disorders.eyes.arizona.edu] Laboratory analysis showed increased serum creatine kinase (maximum levels, 540 UI/L; reference, Complementary studies.[nature.com]

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