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827 Possible Causes for Hyperactive Brainstem Reflexes, Muscle Biopsy Abnormal

  • Motor Neuron Disease

    The results of electromyography and muscle biopsy were compatible with ALS. However, supranuclear vertical gaze palsy and slow saccades are seen.[] […] tendon reflexes, and Babinski signs.[] The patient had noted clumsiness and weakness in all extremities 5 years before presentation of abnormal eye movements.[]

  • 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[] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[] Muscle biopsies from subjects 1 and 3 were severely dystrophic with abnormal immunofluorescence and western blotting indicative of α-dystroglycan hypoglycosylation.[]

    Missing: Hyperactive Brainstem Reflexes
  • Duchenne Muscular Dystrophy

    Diagnosis of Duchenne Muscular Dystrophy A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle[] […] fibers) For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze[] A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle.[]

    Missing: Hyperactive Brainstem Reflexes
  • Rhabdomyosarcoma

    The full text of this article hosted at is unavailable due to technical difficulties. Original Article First published: 21 December 2001 Cited by: 79 * For the Intergroup Rhabdomyosarcoma Study Group (IRSG) representing the Children's Cancer Group, the Pediatric Oncology Group, the Children's Oncology Group,[…][]

    Missing: Hyperactive Brainstem Reflexes
  • Primary Lateral Sclerosis

    Muscle histology Deltoid muscle biopsies showed no mitochondrial abnormalities or dysfunction (Table 4 ). Muscle biopsies were normal in seven patients.[] Normal Normal Abnormal 18 Abnormal Normal Normal Abnormal 19 Abnormal Normal/increased Normal Normal 20 Abnormal Increased/normal Normal Normal Table 4 Electrophysiological[] […] and histological motor results Patient Electrophysiology Muscle biopsy MEPs Denervation No.* Reinnervation Denervation Reinnervation Upper limb Lower limb *Number of electrophysiological[]

    Missing: Hyperactive Brainstem Reflexes
  • 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.[]

    Missing: Hyperactive Brainstem Reflexes
  • 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[] Trials of several muscle relaxant medications and intravenous immunoglobulin did not provide any significant relief.[]

    Missing: Hyperactive Brainstem Reflexes
  • Becker Muscular Dystrophy

    Electromyography was abnormal in all patients. Muscle biopsy in 1 patient demonstrated normal immunostaining for dystrophin.[] Elevated serum CK Skeletal muscle biopsy showing decreased dystrophin quantity Panel overlap The gene on this panel is also included on our Autism Intellectual Disability[] Dystrophin immunohistochemical analysis showed a discontinuous patchy staining pattern in cardiac and skeletal muscles biopsied from the proband.[]

    Missing: Hyperactive Brainstem Reflexes
  • Eosinophilic Fasciitis

    MRI of femur demonstrated oedema and abnormal enhancement along all of the fascial planes surrounding the pelvic and thigh muscles.[] Currently, eosinophilic fasciitis can be diagnosed definitively only by full-thickness epidermis-to-muscle biopsy.[] Skin, fascial and muscle biopsy demonstrated dense chronic inflammatory cell infiltrate affecting the perimysial connective tissues with abundant eosinophils.[]

    Missing: Hyperactive Brainstem Reflexes
  • MELAS Syndrome

    Electron microscopy of a muscle biopsy sample revealed mitochondria with abnormally arranged cristae and abnormal electron densities.[] Histologically, there are ragged red fibres on muscle biopsy and accumulation of abnormal mitochondria in smooth muscle.[] Demonstration of ragged-red fibers on muscle biopsy.[]

    Missing: Hyperactive Brainstem Reflexes

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