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14 Possible Causes for Absent Deep Tendon Reflex, Muscle Biopsy showing Presence of Vacuoles

  • Glycogen Storage Disease Type 2

    Muscle biopsy in Pompe disease shows the presence of vacuoles that stain positively for glycogen.[dx.doi.org] Quantitatively, muscle glycogen content is elevated up to tenfold above normal in infantile Pompe disease and to a lesser extent in late onset patients.[dx.doi.org] Furthermore, there is anesthesia risk (see section below) in infantile Pompe disease if an open biopsy is done. 26 This risk should be carefully considered, particularly if[dx.doi.org]

  • Hypokalemic Periodic Paralysis

    Michael M. Segal MD PhD 1, Karin Jurkat-Rott MD PhD 2, Jacob Levitt MD 3, Frank Lehmann-Horn MD PhD 2 1 SimulConsult Inc., USA 2 University of Ulm, Germany 3 Mt. Sinai Medical Center, New York, USA 5 June 2009 This article focuses on questions that arise about diagnosis and treatment for people with hypokalemic[…][uni-ulm.de]

  • Distal Myopathy Type 3

    Nemaline Myopathy is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes.[blueprintgenetics.com] The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4.[scielo.br] Hypotonia, floppy infant syndrome, respiratory insufficiency and reduced or absent deep tendon reflexes are common in early onset forms of MPP (i.e. the myopathic form of[rarediseases.org]

  • Proximal Myopathy with Extrapyramidal Signs

    tendon reflexes (DTRs) may be diminished/absent in hypokalemic paralysis Very late findings: Atrophy and hyporeflexia (early presence usually implicates neuropathies) Normal[emedicine.medscape.com] Muscle biopsy shows the presence of vacuoles, containing glycogen, in muscle fibers, which are present during an attack, and which may decrease in number immediately after[intranet.tdmu.edu.ua] Temperature sensation is also decreased or absent, but deep-tendon reflexes are usually intact.[pediatrics.aappublications.org]

  • Fingerprint Body Myopathy

    Deep tendon reflexes were absent and there were no pathological reflexes. There was no fasciculations in the tongue and no tremor was seen in the fingers.[myslide.es] Interattack muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates.[basicmedicalkey.com] Despite normal sensation, deep tendon reflexes are usually diminished or absent.[synapse.koreamed.org]

  • Carcinomatous Myopathic Syndrome

    The only findings are slight blurring of vision, impaired dark adaptation, and sometimes absent deep tendon reflexes.[merckmanuals.com] Muscle biopsy shows inflammation of muscle, fibre necrosis and the presence of vacuoles and filamentous inclusions in fibres (seen by electron microscopy).[somalidoc.com] Deep tendon reflexes are reduced or absent.[aafp.org]

  • Tangier Disease

    Bicipital and knee deep-tendon reflexes were decreased, and tricipital, wrist, and ankle deep-tendon reflexes were absent.[jamanetwork.com] Muscle biopsy demonstrated excess lipid vacuoles on histochemical and electron-microscopic techniques.[ncbi.nlm.nih.gov] Sural nerve biopsy showed a marked loss of large fibers and an increase in small myelinated fibers, with presence of remyelinating fibers and clusters of regeneration; a few[ncbi.nlm.nih.gov]

  • Vacuolar Neuromyopathy

    Decreased or absent deep tendon reflexes. Gait abnormalities to suggest proximal weakness, such as a Trendelenburg gait pattern.[now.aapmr.org] A muscle biopsy of the right deltoid showed an increased size variability, fibre splitting, and the presence of internal nuclei; several fib res (8%) contained vacuoles ([functionalneurology.com] The majority of children have absent deep tendon reflexes but those may be brisk in around a third.[ojrd.biomedcentral.com]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    […] or depressed deep tendon reflexes Conditions associated with central (non-paralytic) hypotonia Acute encephalopathies • Hypoxic-ischaemic encephalopathy Chronic encephalopathies[dnbpediatrics.com] Interattack muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates.[basicmedicalkey.com] Deep tendon reflexes are diminished or absent. The muscle deficits are relentlessly progressive and by teenage years most individuals are wheelchair-bound.[disorders.eyes.arizona.edu]

  • Miyoshi Myopathy Type 3

    Nemaline Myopathy is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes.[blueprintgenetics.com] The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4 .[scielo.br] […] pain Worse after exercise Tendon reflexes: Absent at ankles Systemic Cardiomyopathy: 2 patients No respiratory involvement Course Slowly progressive Patients remain ambulatory[neuromuscular.wustl.edu]

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