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114 Possible Causes for Muscle Biopsy Abnormal, Unable to Stand

  • 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] The majority of individuals are unable to sit or stand without support, and some affected children may never learn to walk.[web.archive.org] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[cedars-sinai.edu]

  • 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] This can result in trouble standing-up. Most are unable to walk by the age of twelve. Affected muscles may look larger due to increased fat content.[dbpedia.org] […] 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]

  • 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] They are usually unable to stand without using their own body to steady themselves and, as such, present with Gower’s sign (where patients use their own hands to push off[lecturio.com] Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings.[ncbi.nlm.nih.gov]

  • Spinal Muscular Atrophy

    Muscle biopsies showed typical signs of neurogenic damage. Molecular genetic analysis showed mutations of the ASAH1 gene.[ncbi.nlm.nih.gov] Children can sit without support but are unable to stand or walk unaided. Children also may have respiratory difficulties.[ninds.nih.gov] They are able to sit without support but are unable to stand or walk unaided, and some may lose the ability to stay seated independently over time without treatment.[ninds.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] Laboratory testing showed elevated muscle enzymes and myopathic abnormalities on electromyographic examination.[ncbi.nlm.nih.gov] In PM the results are often abnormal. Muscle biopsy may also be performed (taking a sample of affected muscle) to look for the inflammation that characterises PM.[myvmc.com]

  • Dermatomyositis

    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] Muscle biopsy abnormalities at some time during their disease: Muscle fiber destruction; Muscle fiber regeneration; Perivascular and interstitial inflammatory infiltrates[clinicaltrials.gov] EMG characteristic muscle biopsy abnormalities and absence of histopathologic signs of other myopathies Signs and Symptoms Grotton’s Sign: An erythematous, scaly eruption[docsity.com]

  • Childhood Dermatomyositis

    The subsequent list, derived from the first survey, comprised MRI abnormalities suggestive of inflammatory myositis; calcinosis; changes on muscle biopsy typical of myositis[rheumatology.oxfordjournals.org] […] weakness, raised serum muscle enzymes, electromyographic abnormalities and consistent muscle biopsy findings .[indianpediatrics.net] Changes on muscle biopsy typical of myositis 61.3 87.4 Abnormalities on MRI suggestive of inflammatory myositis 58 70.6 Other: factor VIII-related (von Willebrand) antigen[rheumatology.oxfordjournals.org]

  • Motor Neuron Disease

    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] The ALS features of the disorder eventually render patients unable to stand, walk, get in or out of bed on their own, or use their hands and arms.[theaftd.org] Unable to stand 2 years SMA 3 Kugelberg-Welander disease 18 months-3 years Able to stand and walk Adult SMA 4 Adult Able to stand and walk Adult SMA muscle SMA.[neuropathology-web.org]

  • 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]

  • Paraparesis

    The muscle abnormalities consisted of the presence of fibres negative for cytochrome oxidase and ragged red fibres which showed intense staining for succinate dehydrogenase[jnnp.bmj.com] I couldn’t stand longer than 20 minutes and I needed a cane to get around.[acupuncturerestoreshealth.com] The finding of evidence of mitochondrial dysfunction in muscle biopsy tissue from affected members of these families supports mitochondrial involvement in the disease process[jnnp.bmj.com]

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