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7,495 Possible Causes for Muscle Biopsy showing Variation In Fiber Size, Muscle Weakness, Onset between 6 and 14 Years

  • Limb-Girdle Muscular Dystrophy

    However, most patients in the current family showed distal as well as proximal limb weakness rather than weakness of toe and finger flexor muscles that were typical features[ncbi.nlm.nih.gov] 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]

  • Muscular Dystrophy

    It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest.[ninds.nih.gov] 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]

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

    Muscle weakness Other names Myasthenia Specialty Neurology Muscle weakness is a lack of muscle strength.[en.wikipedia.org] Occasionally, however, females who carry a DMD gene mutation may have muscle weakness and cramping.[ghr.nlm.nih.gov] Proximal muscle weakness affects muscles closest to the body's midline, while distal muscle weakness affects muscles further out on the limbs.[en.wikipedia.org]

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

    Later symptoms Muscle weakness: Affects the proximal muscles of the limbs mainly.[patient.info] 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]

    Missing: Onset between 6 and 14 Years
  • Limb-Girdle Muscular Dystrophy Type 2B

    Moreover, polymyositis (PM) is manifested as symmetrical proximal muscle weakness of the four limbs, accompanied by an increased level of serum CK.[ncbi.nlm.nih.gov] 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] Muscle weakness affecting the heart muscles or muscles necessary for breathing is uncommon in people with LGMD2B.[rarediseases.info.nih.gov]

    Missing: Onset between 6 and 14 Years
  • Rigid Spine Syndrome

    Diseases related with Edema and Generalized muscle weakness In the following list you will find some of the most common rare diseases related to Edema and Generalized muscle[mendelian.co] 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]

    Missing: Onset between 6 and 14 Years
  • Congenital Merosin-Positive Muscular Dystrophy

    weakness and contractures, associated with dystrophic changes on skeletal muscle biopsy.[ncbi.nlm.nih.gov] (Top) Muscle biopsy showing variation in muscle fiber size with atrophic and hypertrophic fibers.[myslide.es] Three alpha-actinin-3-deficient patients had pure CMD and presented in the newborn period with muscle weakness, hypotonia and arthrogryposis.[ncbi.nlm.nih.gov]

    Missing: Onset between 6 and 14 Years
  • Limb-Girdle Muscular Dystrophy Type 2G

    weakness and atrophy.[malacards.org] Foot drop 0009027 Increased connective tissue 0009025 Increased variability in muscle fiber diameter 0003557 Muscular dystrophy 0003560 Proximal muscle weakness in lower[rarediseases.info.nih.gov] 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]

    Missing: Onset between 6 and 14 Years
  • Distal Myopathy Type 3

    Polyglucosan body myopathy : Late-onset progressive weakness (50s and 60s) affecting proximal limb muscles, increasing distal paresis and only slight weakness of the proximal[neuroweb.us] 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]

  • Multicore Myopathy with External Ophthalmoplegia

    muscle weakness ; High palate ; Hydrops fetalis ; Increased connective tissue ; Increased variability in muscle fiber diameter ; Joint laxity ; Motor delay ; Muscular dystrophy[mousephenotype.org] Overview A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles.[checkorphan.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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