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56 Possible Causes for Mild Facial Muscle Weakness, Muscle Biopsy showing Variation In Fiber Size

  • 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] Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present.[orpha.net] variation in muscle fiber size not segregated by motor unit.[merckmanuals.com]

  • 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] Affected individuals develop weakness of the lower limbs that may be mild or severe. Weakness of facial muscles may also occur.[rarediseases.org]

  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis.[dnatesting.uchicago.edu] Affected individuals develop weakness of the lower limbs that may be mild or severe. Weakness of facial muscles may also occur.[rarediseases.org] 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

    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] Limb weakness is proximal, facial and bulbar weakness in the form of mild ptosis and external ophthalmoplegia is common.[bioline.org.br] 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

    (Top) Muscle biopsy showing variation in muscle fiber size with atrophic and hypertrophic fibers.[myslide.es] […] with mild facial involvement, calf pseudohypertrophy, joint contractures and areflexia.[discovery.ucl.ac.uk] 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]

  • Limb-Girdle Muscular Dystrophy Type 2G

    Affected individuals develop weakness of the lower limbs that may be mild or severe. Weakness of facial muscles may also occur.[rarediseases.org]

  • Multicore Myopathy with External Ophthalmoplegia

    Nervous System: mental retardation, severe small sella Muscle Soft Tissue: mild muscle weakness internal nuclei congenital, nonprogressive myopathy variation in fibrodiameter[malacards.org] Neurological examination revealed hypotonia, mild generalized muscular weakness most prominent in the proximal limb muscles and areflexia with normal plantar reflexes.[docslide.com.br] weakness Skeletal Spine: lumbar lordosis, exaggerated Growth Height: short stature Genitourinary Internal Genitalia Female: hypogonadotropic hypogonadism Neurologic Central[malacards.org]

  • 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] weakness, including mild facial weakness.[medlink.com] […] findings are hypotonia, congenital hip dislocation, torticollis, contractures, arthrogryposis, distal laxity in the neonatal period, and generalized, slowly progressive muscle[medlink.com]

  • Inclusion Body Myositis

    A repeat muscle biopsy showed variation in muscle fiber size, endomysial fibrosis, chronic inflammatory cells with macrophages, and rimmed vacuoles with basophilic stippling[jmedicalcasereports.biomedcentral.com] Facial muscles are unaffected in PM and DM, but mild facial muscle weakness is common in patients with IBM.[accessmedicine.mhmedical.com] There is early weakness and atrophy of forearms and quadriceps and a third of patients also have mild facial weakness.[ncbi.nlm.nih.gov]

  • Facioscapulohumeral Muscular Dystrophy

    Muscle biopsy showed increased variation in fiber size and multifocal degenerating fibers with lymphocytic infiltration.[ncbi.nlm.nih.gov] […] and mild lower facial weakness.[ncbi.nlm.nih.gov] The 53-year-old mother of the proband had limb-girdle (L-G) type muscular weakness with very mild facial involvement.[ncbi.nlm.nih.gov]

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