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3,757 Possible Causes for Muscle Biopsy showing Variation In Fiber Size, Onset between 6 and 14 Years, Scoliosis

  • 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] What's New in the Management of Neuromuscular Scoliosis. J Pediatr Orthop. 2016 Sep. 36 (6):627-33. [Medline].[emedicine.com] variation in muscle fiber size not segregated by motor unit.[merckmanuals.com]

    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] Scoliosis - occurs mainly after wheelchair dependence. Careful attention to seating is important.[patient.info] 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]

  • Duchenne Muscular Dystrophy

    One of them showed severe scoliosis. After hospitalization chest CT scan revealed extensive pulmonary bilateral segmental atelectasis.[ncbi.nlm.nih.gov] Ages at loss of ambulation or scoliosis diagnosis did not differ statistically among treatment groups.[ncbi.nlm.nih.gov] […] of systemic musculature and myocardium causes affected patients to develop multiple organ disabilities, including loss of ambulation, physical immobility, neuromuscular scoliosis[ncbi.nlm.nih.gov]

    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] […] dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis[rarediseases.info.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
  • 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] Progressive scoliosis and contracture formation may require surgical intervention.[emedicine.medscape.com] 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
  • Multicore Myopathy with External Ophthalmoplegia

    * Poor infant feeding * Breathing problems * Delayed motor development * Difficulty running in childhood * Wasting of neck muscles * Wasting of shoulder girdle muscles * Scoliosis[checkorphan.org] […] onset ; Phenotypic variability ; Polyhydramnios ; Proximal muscle weakness ; Ptosis ; Pulmonary hypoplasia ; Recurrent respiratory infections ; Respiratory insufficiency ; Scoliosis[mousephenotype.org] Also present in these patients and not previously reported is the association of multicore myopathy with paraspinal contractures which produce a characteristic scoliosis described[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] Symptoms - Muscular dystrophy- congenital- merosin-positive Spine rigidity Scoliosis Delayed motor development Reduced infant muscle tone Weak infant suck Delayed head control[checkorphan.org] […] weakness Weakness in muscles of upper arms and upper legs 0003701 Respiratory insufficiency due to muscle weakness Decreased lung function due to weak breathing muscles 0002747 Scoliosis[rarediseases.info.nih.gov]

    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] Bracing of the spine may limit the progression of scoliosis.[now.aapmr.org] Scoliosis - occurs mainly after wheelchair dependence. Careful attention to seating is important.[patient.info]

    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] […] of arthrogryposis, but the majority of patients had either congenital scoliosis or the long "C" curve typical of neuromuscular scoliosis.[scoliosisjournal.biomedcentral.com] Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis Delle Vedove, A.; Storbeck, M.;[m.eurekamag.com]

    Missing: Onset between 6 and 14 Years
  • 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] […] factors for independent walking were active hips and knees, hip flexion contractures of less than 20 degrees and knee flexion contractures less than 15 degrees without severe scoliosis[checkorphan.org] Scoliosis often develops by five years of age. Escobar syndrome is an autosomal recessive condition. Surgical treatment of the pterygium may be necessary.[pediatricneuro.com]

    Missing: Onset between 6 and 14 Years

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