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291 Possible Causes for Flat Thorax, Muscle Biopsy showing Variation In Fiber Size, 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] thorax Skeletal Spine: scoliosis spinal rigidity limited flexion Muscle Soft Tissue: axial muscle weakness poor head control hypotonia muscle weakness, diffuse generalized[malacards.org] 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
  • 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]

    Missing: Flat Thorax
  • Multicore Myopathy with External Ophthalmoplegia

    No significant vertebral column abnormsality developed, but a mild thoracolumbar scoliosis, slight flat thorax and mild bilateral elbow contractures were seen. Case 2.[scielo.br]

    Missing: Onset between 6 and 14 Years
  • 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] No significant vertebral column abnormsality developed, but a mild thoracolumbar scoliosis, slight flat thorax and mild bilateral elbow contractures were seen. Case 2.[scilit.net]

    Missing: Onset between 6 and 14 Years
  • 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: Flat Thorax 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: Flat Thorax 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: Flat Thorax 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: Flat Thorax 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: Flat Thorax Onset between 6 and 14 Years
  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    Muscle biopsies in all four patients showed similar changes.[bioline.org.br] 12 mo 1 1 Polythelia6 DMM NA 1 1 Flat feet HL5 7 NH 14 mo 11 111 111 Flat thorax, hollow rigid back 8 NH 14 mo 111 11 111 Flat thorax, hollow rigid back6 9 NH, respiratory[docslide.net] There was mild variation in fiber size without central localization of nuclei. Degenerative or regenerative fibers were not seen.[bioline.org.br]

    Missing: Onset between 6 and 14 Years

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