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113 Possible Causes for Congenital Joint Contractures - Knee Ankle Hip Elbow, Muscle Biopsy showing Variation In Fiber Size

  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis.[dnatesting.uchicago.edu] Distribution Flexion: IP joints medial 4 fingers, wrists, elbows, ankles Proximal: Pectorals, Knees, Shoulders, Hips Truncal Congenital: Torticollis Disease progression:[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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Arthrogryposis due to Muscular Dystrophy

    Muscle biopsy shows variation in fiber size, a central nucleus, and replacement of muscle tissue by fibrosis and proliferation of adipose tissue.[pediatricneuro.com] Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au] Babies with congenital muscular dystrophy often appear “floppy” (this may also be described by doctors as having low muscle tone or hypotonia).[mda.org.au]

  • Duchenne Muscular Dystrophy

    We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems. The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. Multiplex ligation-dependent probe[…][ncbi.nlm.nih.gov]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Arthrogryposis Syndrome

    Muscle biopsy shows variation in fiber size, a central nucleus, and replacement of muscle tissue by fibrosis and proliferation of adipose tissue.[pediatricneuro.com] The joints of the hands, wrists, feet, and ankles are most commonly involved although more proximal joints ( e.g ., elbow, shoulder, knee, and hip) also can be affected.[ojrd.biomedcentral.com] Limbs In an isolated case, the presence of congenital contractures is mandatory in order to entertain the diagnosis of SHS.[ojrd.biomedcentral.com]

  • 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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • 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] Contractures (tightness) in the joints - the ankles, hips, knees and elbows - is also common. The contractures can sometimes be severe and affect several joints.[treat-nmd.eu] Muscle biopsy in all our patients showed a dystrophic picture with extensive pericellular fibrosis, fiber size variation, and rounding.[annalsofian.org]

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