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819 Possible Causes for Bilateral Pelvic Girdle Weakness, EMG Shows Evidence of Reinnervation, Muscle Biopsy Abnormal

  • 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[disabled-world.com] […] 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[webmd.com] A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle.[genome.gov]

    Missing: EMG Shows Evidence of Reinnervation
  • Erb Muscular Dystrophy

    Symptoms - Muscular dystrophy limb girdle type 2A- Erb type Muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle.[checkorphan.org] biopsy (examination of a sample of the weak muscle tissue under a microscope), and genetic testing.[msdmanuals.com] Diagnostic Test Results-Diagnostic Procedures Results of biopsy of the muscle confirm the diagnosis.[quizlet.com]

    Missing: EMG Shows Evidence of Reinnervation
  • Becker Muscular Dystrophy

    Electromyography was abnormal in all patients. Muscle biopsy in 1 patient demonstrated normal immunostaining for dystrophin.[ncbi.nlm.nih.gov] 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[unmc.edu] Dystrophin immunohistochemical analysis showed a discontinuous patchy staining pattern in cardiac and skeletal muscles biopsied from the proband.[ncbi.nlm.nih.gov]

    Missing: EMG Shows Evidence of Reinnervation
  • 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] Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings.[ncbi.nlm.nih.gov] Due to increased CPK, myopathy was suspected and muscle biopsy was performed.[ncbi.nlm.nih.gov]

    Missing: EMG Shows Evidence of Reinnervation
  • 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] Muscle biopsy may display several common findings including; inflammatory cells invading muscle cells, vacuolar degeneration, inclusions or plaques of abnormal proteins. sIBM[en.wikipedia.org] Here, we examined sIBM muscle for abnormalities in two other hnRNPs hnRNPA1 and hnRNPA2B1, mutations in which cause multisystem proteinopathy associated with rimmed-vacuolar[ncbi.nlm.nih.gov]

    Missing: EMG Shows Evidence of Reinnervation
  • Polymyalgia Rheumatica

    Microscopic and laboratory examination of muscle tissue samples (biopsy) from affected individuals does not usually reveal any muscle abnormality.[rarediseases.org] Muscle biopsy is recommended in patients with inflammatory myositis. How is PMR treated? Glucocorticoids are the mainstay of therapy for patients diagnosed with PMR.[news-medical.net] […] diagnosis of polymyalgia rheumatica may be confirmed by a thorough clinical examination including a detailed patient history and specialized blood testing that demonstrates an abnormally[rarediseases.org]

    Missing: EMG Shows Evidence of Reinnervation
  • Motor Neuron Disease

    For patients with MND affecting the LMNs, the EMG will show evidence of: (1) acute denervation, which is ongoing as motor neurons degenerate, and (2) chronic denervation and[en.wikipedia.org] The results of electromyography and muscle biopsy were compatible with ALS. However, supranuclear vertical gaze palsy and slow saccades are seen.[ncbi.nlm.nih.gov] reinnervation of the muscle, as the remaining motor neurons attempt to fill in for lost motor neurons.[en.wikipedia.org]

    Missing: Bilateral Pelvic Girdle Weakness
  • Facioscapulohumeral Muscular Dystrophy

    […] paresis of arm retroversion, foot drop, minimal proximal leg and pelvic girdle weakness, striking Gothic palate, thoracic scoliosis, and lumbar hyperlordosis were seen.[jamanetwork.com] If genetic testing does not confirm the diagnosis, then muscle biopsy can be done.[merckmanuals.com] Doctors can tell a lot from a biopsy sample, which can be subjected to many types of biochemical tests to reveal cellular and molecular abnormalities that suggest certain[web.archive.org]

    Missing: EMG Shows Evidence of Reinnervation
  • Oculopharyngeal Muscular Dystrophy

    Muscle biopsy showed only minor light microscopic abnormalities but electron microscopy revealed fibres containing paracrystalline mitochondrial inclusions.[ncbi.nlm.nih.gov] A muscle biopsy specimen in Case 2 showed abundant rimmed vacuoles and abnormal filaments 13-19 nm in diameter in the sarcoplasm, usually reported to occur in inclusion body[ncbi.nlm.nih.gov] Histological and histochemical studies of muscle biopsy showed nonspecific myopathic changes; no "ragged-red" fibers were seen.[ncbi.nlm.nih.gov]

    Missing: EMG Shows Evidence of Reinnervation
  • Steroid Myopathy

    Muscle biopsy can also be performed. In the chronic presentation there is atrophy of type II muscle fibers without evidence of inflammation or necrosis.[robertbeckmd.com] Muscle biopsy in acute SM shows focal and diffuse necrosis of all types of muscle fibers without the involvement of type II fibers.[symptoma.com] In acute cases with quadriplegic myopathy, the muscle biopsy is abnormal and shows a distinctive loss of thick filaments (Myosin).[frontiersin.org]

    Missing: EMG Shows Evidence of Reinnervation