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29 Possible Causes for Muscle Biopsy showing Variation In Fiber Size, Percussion Myotonia

  • Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] 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] […] typically elicited by percussion of the thenar eminence with a tendon hammer—‘percussion myotonia’.[doi.org]

  • Limb-Girdle Muscular Dystrophy

    Patients with myotonic dystrophy type 1 may present subtle myotonia and it may be necessary to search for tenar muscle percussion myotonia 15.[doi.org] Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis.[dnatesting.uchicago.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]

  • Rigid Spine Syndrome

    […] nigricans Hypertriglyceridemia Atrial fibrillation Macrocephaly Accelerated skeletal maturation Recurrent bacterial infections Insulin resistance Epidermal acanthosis Hirsutism Percussion[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]

  • Congenital Merosin-Positive Muscular Dystrophy

    The demonstration of grip or percussion myotonia and facial weakness in the mother establishes the diagnosis of myotonic dystrophy.[mrineonatalbrain.com] (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]

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] Muscle MRI revealed marked atrophy in the serratus anterior muscle in both patients. Muscle biopsy findings showed central nuclei and variations in fiber size.[ncbi.nlm.nih.gov] The less common clinical syndromes, which include the two possible cases of myotonic dystrophy, are: (2) almost pure myotonia, symptomatic from early infancy (one case) or[pediatrics.aappublications.org]

  • Upper Limb Hypertrophy

    No percussion myotonia or involuntary movements were noted. Sensory examination was normal and tendon reflexes were elicited normally and symmetric.[amhsjournal.org] Table 1 Clinical features of reported cases Biopsies (from unilateral cases) showed only a slightly more-than-normal variation in fiber size, without signs of inflammation[karger.com] , pathological blood vessels, fibrosis, or loss of muscle fibers.[karger.com]

  • Congenital Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] 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] Muscle biopsy in all our patients showed a dystrophic picture with extensive pericellular fibrosis, fiber size variation, and rounding.[annalsofian.org]

  • Distal Myopathy Type 3

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[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] Muscle hypertrophy may be seen Grip and percussion myotonia can be seen Tx : Mexiletene.[sites.google.com]

  • Emery-Dreifuss Muscular Dystrophy Type 1

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] Serum creatine kinase was increased and muscle biopsy showed moderate fiber size variation, internalized nuclei, and absence of emerin staining.[genome.jp] Muscle Histopathology shows nonspecific myopathic or dystrophic changes: variation in fiber size, increase in internal nuclei, increase in endomysial connective tissue, necrotic[physio-pedia.com]

  • Hyaline Body Myopathy

    There were no fasciculations and no percussion myotonia.[docslide.com.br] biopsy from a patient with Emery–Dreifuss muscular dystrophy showing fiber size variation and internal nuclei.[clinicalgate.com] There was no percussion myotonia. No other relatives could be Nemaline myopathy 125 examined, but anamnestic data of a number of them were available.[docslide.com.br]

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