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3,540 Possible Causes for Creatine Kinase Normal or Increased, Restrictive Ventilatory Defect, 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

    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: Restrictive Ventilatory Defect
  • 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: Restrictive Ventilatory Defect
  • Hereditary Mucoepithelial Dysplasia

    Papanicolaou smears show lack of epithelial cell maturation, poikilocytosis, anisocytosis, large paranuclear cytoplasmic vacuoles, and cytoplasmic strand-shaped inclusions[ncbi.nlm.nih.gov] ventilatory defect Increased antibody level in blood Premature graying of hair Pulmonary fibrosis Recurrent fractures Flared metaphysis Phimosis Neonatal respiratory distress[mendelian.co] Vaginal, oral, and urinary cytological smears show a lack of epithelial cell maturation, large paranuclear cytoplasmic vacuoles, and cytoplasmic strand-shaped inclusions.[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: Restrictive Ventilatory Defect
  • Lipid Pneumonia

    The lung biopsy specimen disclosed organisms within lipid vacuoles in the areas of lipid pneumonia, while caseating granulomas, the usual tissue reaction to pathogenic mycobacteria[ncbi.nlm.nih.gov] ventilatory defect.[ncbi.nlm.nih.gov] BAL analysis showed a marked reduction in the total number of alveolar macrophages; almost 70% of these cells contained intracytoplasmic lipid vacuoles.[ncbi.nlm.nih.gov]

    Missing: Creatine Kinase Normal or Increased
  • 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: Restrictive Ventilatory Defect
  • 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: Restrictive Ventilatory Defect
  • 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: Restrictive Ventilatory Defect
  • Zebra Body Myopathy

    0006785 5 waddling gait 60 33 hallmark (90%) Very frequent (99-80%) HP:0002515 6 emg: myopathic abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0003458 7 rimmed vacuoles[malacards.org] ventilatory defect Hip dislocation Macroglossia Knee flexion contracture Ankle contracture Myositis Progressive Unsteady gait Growth delay Intellectual disability Myalgia[mendelian.co] 0003236 5 limb-girdle muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006785 6 waddling gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515 7 rimmed vacuoles[malacards.org]

    Missing: Creatine Kinase Normal or Increased

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