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188 Possible Causes for Muscle Biopsy showing Variation In Fiber Size, Onset between 6 and 14 Years, Positive Gower's Sign

  • 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 report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle[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] Boys with DMD demonstrate a positive Gowerssign, a maneuver used by individuals with proximal muscle weakness to rise from a seated position.[natera.com] variation in muscle fiber size not segregated by motor unit.[merckmanuals.com]

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

    A physical examination revealed proximal muscle weakness, calf hypertrophy, deep tendon hyporflexia and a positive Gower's sign.[ncbi.nlm.nih.gov] The condition progresses rapidly and the child develops a waddling gait and a positive Gower's sign.[orpha.net]

    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] From age 27 years, he developed proximal muscle weakness predominantly of the lower limbs, a positive Gower sign, and a waddling gait.[ncbi.nlm.nih.gov] A clinical examination may reveal decreased or lost muscle reflexes and, commonly, a positive Gower sign.[bcidaho.com]

    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] She had proximal muscle weakness and was positive for Gowerssign. She had difficulty in bending and turning her neck fully.[ncbi.nlm.nih.gov] 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]

    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] She had proximal muscle weakness and was positive for Gowerssign. She had difficulty in bending and turning her neck fully.[ncbi.nlm.nih.gov] 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]

    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] Gower sign, and variable muscle cramps after exercise; Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 1G

    Muscle biopsy showed fiber size variation with very discrete perimyseal fibrosis, and several necrotic fibers with rimmed vacuoles.[doi.org] Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.[orpha.net] Results CK levels and Biopsy Serum creatine-kinase (CK) analyzed in 12 patients was normal or slightly increased (up to 10-fold above upper reference value) ( Table 1 ).[doi.org]

    Missing: Onset between 6 and 14 Years
  • Emery-Dreifuss Muscular Dystrophy Type 2

    Muscle biopsy was performed on the left biceps brachii, and the biopsy specimen showed moderate fiber size variation, with some regenerating fibers and several fibers with[mafiadoc.com] […] showed a positive Gowers sign.[elsevier.es] LGMDIC is characterized by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps[archive.org]

    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 Positive Gower's Sign

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