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4,444 Possible Causes for Muscle Biopsy showing Variation In Fiber Size, Myopathy, 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] For this reason our finding extends the histological spectrum of myopathies due to ANO5 mutations as well as the possible differential diagnoses for necrotizing myopathy.[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] Nemaline myopathy Nemaline myopathy. Clusters of rod bodies. Gomori trichrome. Nemaline myopathy Nemaline myopathy. EM.[neuropathology-web.org] variation in muscle fiber size not segregated by motor unit.[merckmanuals.com]

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

    It is associated with a wide variety of myopathic disorders that affect paraspinal muscles, including inflammatory and inherited myopathies.[ncbi.nlm.nih.gov] Exemple avec la myopathie de Duchenne dont Simon est atteint depuis l'âge de 2 ans.[youtube.com] MRI, EMG and NCV were compatible with proximal muscle myopathy.[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] In a boy with myopathy and an increase of muscle fibres with central nuclei we detected a heterozygous 387G-- T nucleotide transversion in the MYF6 gene (MIM*159991).[ncbi.nlm.nih.gov] We describe two families which were initially classified as metabolic myopathies, until the diagnosis of atypical BMD was established after dystrophin analysis at the protein[ncbi.nlm.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] Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM) are autosomal recessive disorders caused by mutations in the dysferlin gene on chromosome 2p13.[ncbi.nlm.nih.gov] Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy. Table 1 Diagnostic principles of limb girdle muscular dystrophy, type 2B and Miyoshi myopathy References 1.[link.springer.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] […] while the other had mitochondrial myopathy.[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] Congenital myopathy Congenital myopathy usually affects individuals most often in the perinatal period.[healthery.com] 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 Type 2G

    The book also covers myofibrillar myopathies; Emery–Dreifuss muscular dystrophy; facioscapulohumeral dystrophy and scapuloperoneal syndromes; oculopharyngeal muscular dystrophy[books.google.com] A rare autosomal recessive degenerative myopathy (OMIM:601954) characterised by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle[medical-dictionary.thefreedictionary.com] UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2G: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy[malacards.org]

    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] Elsevier Health Sciences, 23.07.2014 - 14 Seiten Congential myopathies, Muscular dystropies, Glycogen storage diseases of muscle, and Idiopathic and Inflammatory myopathies[books.google.de]

  • Multicore Myopathy with External Ophthalmoplegia

    : - Eye Tests - Vision Tests Prognosis - Myopathy congenital multicore with external ophthalmoplegia Prognosis of Myopathy congenital multicore with external ophthalmoplegia[checkorphan.org] Name Minicore Myopathy With External Ophthalmoplegia Synonyms MINICORE MYOPATHY, MULTICORE MYOPATHY, MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA, MULTIMINICORE MYOPATHY[mousephenotype.org] Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development.[ncbi.nlm.nih.gov]

    Missing: Onset between 6 and 14 Years

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