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127 Possible Causes for 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] Muscle biopsy shows evidence of a dystrophy with random variation in fiber size and evidence of degeneration and regeneration. Type one fibers may predominate.[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] variation in muscle fiber size not segregated by motor unit.[merckmanuals.com] Serum creatine kinase was increased and muscle biopsy showed moderate fiber size variation, internalized nuclei, and absence of emerin staining.[web.archive.org]

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

    The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced[…][ncbi.nlm.nih.gov]

    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] Muscle biopsy revealed mild myopathic features including variation in fiber size and a few necrotic and regenerating muscle fibers.[doi.org] In both cases, western blot showed a reduced dystrophin band. Genetic evaluation revealed a deletion of exon 26 of the dystrophin gene in both.[ncbi.nlm.nih.gov]

    Missing: Onset between 6 and 14 Years
  • Progressive Myoclonic Epilepsy Type 7

    — Not enough data available about incidence and published cases. Panel Name, Specifity and genes Tested/covered Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2,[…][mendelian.co]

    Missing: Muscle Biopsy showing Variation In Fiber Size
  • 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]

    Missing: Onset between 6 and 14 Years
  • Rigid Spine Syndrome

    Muscle biopsy performed in the older brother showed increase in fibrosis, variation in fiber size, type I fibre predominance, and the presence of central and eccentric cores[cags.org.ae] In some individuals with CMD, muscle biopsy may only show fiber size variation with absence of or only mild manifestations of fibrosis, necrosis, or regeneration [ Wang et[ncbi.nlm.nih.gov] Muscle biopsies in all four patients showed similar changes.[bioline.org.br]

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

    (Top) Muscle biopsy showing variation in muscle fiber size with atrophic and hypertrophic fibers.[myslide.es] In some individuals with CMD, muscle biopsy may only show fiber size variation with absence of or only mild manifestations of fibrosis, necrosis, or regeneration [ Wang et[ncbi.nlm.nih.gov] Muscle biopsy from patient #3 revealed fibre size variation, moderate endomysial fibrosis, atrophic angulated myofibers and fiber type grouping suggesting a neuropathic pattern[content.iospress.com]

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

    Reference work entry DOI: 10.1007/978-3-540-29676-8_2615 Synonyms Telethoninopathy Definition and Characteristics Autosomal recessive, relatively mild form of progressive neuromuscular disorder with a wide spectrum of inter- and intra-familial clinical variability. The age at onset ranges from 9 to 15 years old and[…][link.springer.com]

    Missing: Onset between 6 and 14 Years
  • Distal Myopathy Type 3

    Figure 2 Immunohistochemistry, immunoblotting and molecular genetic analysis. ( A ) Micrograph of the muscle biopsy of the right gastrocnemius muscle showing markedly increased[jmedicalcasereports.biomedcentral.com] Age of onset of initial symptoms varied between patients: In family A (Fig. 1A ), while patient 6 was symptomatic already at 2 years of age, patients 1, 5 and 7 recall initial[bmcmedgenet.biomedcentral.com] Muscle Biopsy Muscle biopsy was obtained from the left biceps brachii. It showed marked fiber size variation ranging from 10 to 120 μm.[karger.com]

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