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464 Possible Causes for Creatine Phosphokinase Increased, Muscle Biopsy showing Variation In Fiber Size, Onset between 6 and 14 Years

  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis.[dnatesting.uchicago.edu] Early motor milestones: Most normal; Toe walking common Range: 2 to 45 years; Median 14 to 20 years; 71% between 6 to 18 years Weakness: Proximal legs; Rectus abdominus No[neuromuscular.wustl.edu] We present a 19-year-old girl with epilepsy and elevated creatine phosphokinase (CPK) concentration.[ncbi.nlm.nih.gov]

  • Muscular Dystrophy

    Muscle biopsies of the proband showed large variations in muscle fiber size, necrotic and regenerating fibers and an increase in endomysial collagen tissue.[ncbi.nlm.nih.gov] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.[en.wikipedia.org] variation in muscle fiber size not segregated by motor unit.[merckmanuals.com]

    Missing: Onset between 6 and 14 Years
  • Becker Muscular Dystrophy

    The muscle biopsy was myopathic with increased fiber size variation and many internal nuclei, but no dystrophy. No comorbidity was found.[ncbi.nlm.nih.gov] High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine[rarediseases.info.nih.gov] Muscle biopsy revealed mild myopathic features including variation in fiber size and a few necrotic and regenerating muscle fibers.[doi.org]

    Missing: Onset between 6 and 14 Years
  • Duchenne Muscular Dystrophy

    English Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle Muscular dystrophy, Duchenne MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD Severe[…][wikidata.org]

    Missing: Onset between 6 and 14 Years
  • Limb-Girdle Muscular Dystrophy Type 2G

    High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine[rarediseases.info.nih.gov] […] kinase Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase[rarediseases.info.nih.gov] phosphokinase [ more ] 0003236 Foot dorsiflexor weakness Foot drop 0009027 Increased connective tissue 0009025 Increased variability in muscle fiber diameter 0003557 Muscular[rarediseases.info.nih.gov]

    Missing: Onset between 6 and 14 Years
  • Congenital Muscular Dystrophy

    Muscle biopsies of the proband showed large variations in muscle fiber size, necrotic and regenerating fibers and an increase in endomysial collagen tissue.[ncbi.nlm.nih.gov] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.[en.wikipedia.org] Muscle biopsy in all our patients showed a dystrophic picture with extensive pericellular fibrosis, fiber size variation, and rounding.[annalsofian.org]

    Missing: Onset between 6 and 14 Years
  • Limb-Girdle Muscular Dystrophy Type 2B

    EMG showed myopathic changes and skeletal muscle biopsies showed severe myopathic changes with variation of fiber size, fiber splitting, increased connective tissue, and some[checkorphan.org] High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine[rarediseases.info.nih.gov] A blood test reveals an increase in the level of an enzyme known as creatine phosphokinase (CPK).[geneticsofpregnancy.com]

    Missing: Onset between 6 and 14 Years
  • Polymyositis

    The muscle biopsy showed loss of fascicular architecture, variation in fiber size with atrophic fibers, and degenerating and regenerating fibers with adipose tissue infiltration[annalsofian.org] There was increased proximal muscle strength and reduction in the creatine phosphokinase level.[rheumatology.oxfordjournals.org] In five patients with refractory juvenile dermatomyositis, muscle strength increased and creatine phosphokinase levels decreased with combination therapy.[rheumatology.oxfordjournals.org]

    Missing: Onset between 6 and 14 Years
  • Dermatomyositis

    Muscle biopsy from a patient with polymyositis showing endomysial inflammatory cells (arrows) and variations of fiber size without a specific pattern (C, H&E 40 ).[doi.org] Elevated creatine phosphokinase increases the suspicion of an inflammatory muscle disease, and muscle biopsy is the definitive diagnostic tool for inflammatory myopathies.[rc.rcjournal.com] Creatine phosphokinase (CPK) was increased at 1,319U/L (normal Human Immunodeficiency Virus 1 and 2 antibodies, Epstein-Barr virus and cytomegalovirus antigenaemia.[revistanefrologia.com]

    Missing: Onset between 6 and 14 Years
  • Congenital Muscular Dystrophy Type 1A

    Muscle biopsy in all our patients showed a dystrophic picture with extensive pericellular fibrosis, fiber size variation, and rounding.[annalsofian.org] […] kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [3] Some reports indicate that people with[rarediseases.info.nih.gov] biopsy also shows less active necrosis and more pronounced fibrosis.[annalsofian.org]

    Missing: Onset between 6 and 14 Years

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