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120 Possible Causes for Creatine Kinase Normal or Increased, Muscle Biopsy Abnormal, Vacuolization

  • Inclusion Body Myositis

    Muscle biopsy may display several common findings including; inflammatory cells invading muscle cells, vacuolar degeneration, inclusions or plaques of abnormal proteins.[phoenixstemcelltreatmentcenter.com] 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]

  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy abnormalities in two individuals very early in the course of their disease suggest that biopsy would probably be useful in detection of preclinical disease in[pediatrics.aappublications.org] […] 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]

  • Glycogen Storage Disease Type 2

    A muscle tissue biopsy may be assayed for muscle glycogen phosphorylase enzyme activity.[encyclopedia.com] 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]

  • Oculo-Pharyngo-Distal Myopathy

    The diagnosis of Becker muscular dystrophy requires Western blot analysis of muscle biopsy samples, demonstrating a reduced amount or abnormal size of dystrophin or mutation[clinicalgate.com] 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]

  • Muscular Dystrophy

    This condition is typically characterized by large and abnormally distributed mitochondria on muscle biopsy, which can distinguish this condition from the other muscle conditions[ncbi.nlm.nih.gov] Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation . J Neurol Sci, 1981; 51: 141–155.[link.springer.com] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[orpha.net]

  • Facioscapulohumeral Muscular Dystrophy

    If genetic testing does not confirm the diagnosis, then muscle biopsy can be done.[merckmanuals.com] 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]

  • Amyotrophic Lateral Sclerosis

    Only about 10% of ALS patients have abnormal nerve conduction study results, but the test can also suggest other diagnoses. A muscle biopsy.[webmd.com] Cytoplasmic vacuoles were found in the remaining anterior horn motor neurons of the lumbar spinal cord.[ncbi.nlm.nih.gov] Clinical laboratory tests that may be abnormal in otherwise typical case of ALS include [ 9 ]: • Muscle enzymes (serum creatine kinase [unusual above ten times upper limit[doi.org]

  • MELAS Syndrome

    Electron microscopy of a muscle biopsy sample revealed mitochondria with abnormally arranged cristae and abnormal electron densities.[mja.com.au] ) Electron microscopy showing abnormal collection of mitochondria with paracrystalline inclusions (arrowhead), osmiophilic inclusions (large arrowhead) and mitochondrial vacuoles[en.wikipedia.org] Biochemistry was normal except for increased level of serum creatine kinase (189 643, n.v 38–174 U/l).[bmcneurol.biomedcentral.com]

  • Childhood Dermatomyositis

    The subsequent list, derived from the first survey, comprised MRI abnormalities suggestive of inflammatory myositis; calcinosis; changes on muscle biopsy typical of myositis[rheumatology.oxfordjournals.org] Numerous dark-stained fibers and vacuoles were observed in periodic acid-Schiff (PAS) staining.[ijdvl.com] […] correlates with successful treatment); and (d) dynamic range (increases in creatine kinase with PM/DM are often 20–50 times normal).[rheumaknowledgy.com]

  • Myoadenylate Deaminase Deficiency

    The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed.[ncbi.nlm.nih.gov] The vacuoles also stain intensely to acid phosphates, confirming that the vacuoles filled with glycogen are secondary lysosomes.[annalsofneurosciences.org] creatin kinase level 3,273 UI/L (normal 24-195) which goes down in rest period to increase again with myalgias during exercise .[pesquisa.bvsalud.org]

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