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172 Possible Causes for Mild Facial Muscle Weakness, Muscle Biopsy Abnormal

  • Muscular Dystrophy

    This condition is typically characterized by large and abnormally distributed mitochondria on muscle biopsy, which can distinguish this condition from the other muscle conditions[ncbi.nlm.nih.gov] Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present.[orpha.net] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[cedars-sinai.edu]

  • Inclusion Body Myositis

    Muscle biopsy may display several common findings including; inflammatory cells invading muscle cells, vacuolar degeneration, inclusions or plaques of abnormal proteins.[phoenixstemcelltreatmentcenter.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

    If genetic testing does not confirm the diagnosis, then muscle biopsy can be done.[merckmanuals.com] […] 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]

  • Polymyositis

    Muscle biopsy abnormalities at some time during their disease: i. degeneration and regeneration of muscle fibers ii. necrosis iii. phagocytosis iv. interstitial mononuclear[clinicaltrials.gov] Facial muscles are unaffected in PM and DM, but mild facial muscle weakness is common in patients with IBM.[accessmedicine.mhmedical.com] Laboratory testing showed elevated muscle enzymes and myopathic abnormalities on electromyographic examination.[ncbi.nlm.nih.gov]

  • Stiff-Person Syndrome

    Previous diagnostic testing, including magnetic resonance imaging, muscle biopsy, and electromyography, showed no specific abnormalities and blood was negative for anti-GAD[redorbit.com] In later stages of SPS, mild atrophy and muscle weakness are likely.[mdedge.com] Trials of several muscle relaxant medications and intravenous immunoglobulin did not provide any significant relief.[redorbit.com]

  • Primary Lateral Sclerosis

    Muscle histology Deltoid muscle biopsies showed no mitochondrial abnormalities or dysfunction (Table 4 ). Muscle biopsies were normal in seven patients.[brain.oxfordjournals.org] On examination, she had a spastic dysarthria with facial asymmetry. She had mild right-sided pyramidal distribution weakness.[karger.com] Normal Normal Abnormal 18 Abnormal Normal Normal Abnormal 19 Abnormal Normal/increased Normal Normal 20 Abnormal Increased/normal Normal Normal Table 4 Electrophysiological[brain.oxfordjournals.org]

  • Amyotrophic Lateral Sclerosis

    Only about 10% of ALS patients have abnormal nerve conduction study results, but the test can also suggest other diagnoses. A muscle biopsy.[webmd.com] Family history; fasciculations of facial muscles; gynaecomastia; proximal symmetrical weakness in addition to foot drop; mild sensory neuropathy on NCS; positive DNA test[doi.org] […] improvement with intravenous immunoglobulin (IVIG) in 70% Kennedy's disease (X-linked bulbar and spinal muscular atrophy) Males symptomatic; slowly progressive bulbar and limb weakness[doi.org]

  • Erb Muscular Dystrophy

    biopsy (examination of a sample of the weak muscle tissue under a microscope), and genetic testing.[msdmanuals.com] Affected individuals develop weakness of the lower limbs that may be mild or severe. Weakness of facial muscles may also occur.[rarediseases.org] Diagnostic Test Results-Diagnostic Procedures Results of biopsy of the muscle confirm the diagnosis.[quizlet.com]

  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy abnormalities in two individuals very early in the course of their disease suggest that biopsy would probably be useful in detection of preclinical disease in[pediatrics.aappublications.org] Affected individuals develop weakness of the lower limbs that may be mild or severe. Weakness of facial muscles may also occur.[rarediseases.org] Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings.[ncbi.nlm.nih.gov]

  • Myopathy

    Clinical presentation, abnormal secretion of the collagen demonstrated in muscle biopsy and the COL6A1 c.1056 3A C mutation justify classification of the presented case as[ncbi.nlm.nih.gov] Nemaline myopathy: moderate weakness of voluntary muscles in the arms, legs, and trunk; mild weakness of facial muscles; delays in reaching developmental motor milestones;[healthofchildren.com] Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 2006;77:208-15.[rarediseases.org]

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