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21 Possible Causes for Difficulty Rising from a Squatting Position, Muscle Biopsy Abnormal

  • 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] Patients may have difficulty rising from a chair or squatting and then raising themselves from this position.[emedicine.medscape.com] Muscle biopsy abnormalities at some time during their disease: Muscle fiber destruction; Muscle fiber regeneration; Perivascular and interstitial inflammatory infiltrates[clinicaltrials.gov]

  • 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] The most common reasons for presentation are related to weakness of the quadriceps muscles, such as difficulty rising from low chairs or from the squatting or kneeling positions[ibmmyositis.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]

  • Myoadenylate Deaminase Deficiency

    The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed.[ncbi.nlm.nih.gov] Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] Muscle biopsy showed absence of adenosine monophosphate deaminase activity with normal cytochrome c oxidase and phosphorylase activity.[ncbi.nlm.nih.gov]

  • Distal Myopathy

    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] Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] T1-weighted enhanced skeletal muscle MRI of the lower limbs showed an abnormal signal in the distal and proximal muscles.[ncbi.nlm.nih.gov]

  • Secondary Myopathy

    Muscle biopsy abnormalities in systemic lupus erythematosus: correlation with clinical and laboratory parameters. Ann Rheum Dis. 1994;53:178–82. 20.[aafp.org] Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] Dermatologists may see DM without apparent muscle weakness (dermatomyositis sine myositis) but in most of those patients muscle biopsy will show characteristic abnormalities[jnnp.bmj.com]

  • Distal Myopathy Type 3

    Myoglobinuria Other features Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram Medication induced Corticosteroids [1] Variable Proximal Central obesity Excessive[wikidoc.org] Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] CK and abnormal muscle biopsy findings. [1], [3] The Miyoshi myopathy may be distinct among the hereditary distal myopathies.[ruralneuropractice.com]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    Muscle biopsy analysis Myopathological abnormalities were consistent with a myopathy that varied in severity between patients depending on the stage of illness.[bmcneurol.biomedcentral.com] biopsy Fiber type grouping Grouped atrophy Ultrastructure: Abnormal mitochondria; Paracrystalline inclusions Intellectual Disability 31 NOL1/NOP2/SUN domain family, member[neuromuscular.wustl.edu] Two of the sarcoglycanopathies (LGMD2C and D) have also been associated with respiratory muscle involvement. 25 Other myopathies Muscle biopsy is required to identify other[dovepress.com]

  • Myopathic Carnitine Deficiency

    Muscle biopsy abnormalities in systemic lupus erythematosus: correlation with clinical and laboratory parameters. Ann Rheum Dis . 1994;53:178–82. 20.[aafp.org] rising from squatting position, getting up from chair •tender muscles to pressure •can progress rapidly with complications such as dysphagia and aspiration pneumonia •skin[quizlet.com] The muscle carnitine level was abnormally low, but the serum carnitine level was normal.[jamanetwork.com]

  • Thiamine Deficiency

    A biopsy specimen from the quadriceps muscle showed myopathic changes without neurogenic changes. Abnormalities improved well with thiamine administration.[ncbi.nlm.nih.gov] The neuropathy affects the legs most markedly, and these patients have difficulty rising from a squatting position. [4] In our case, the patient had both features of wet and[jdrntruhs.org] Serum creatine kinase, myoglobin, and aldolase concentrations were abnormally elevated.[ncbi.nlm.nih.gov]

  • Polyglucosan Body Myopathy Type 2

    These mitochondrial diseases are characterized by muscle weakness, exercise intolerance, elevated creatine kinase, and abnormal muscle biopsy findings.[mayomedicallaboratories.com] Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] Muscle biopsy (vastus lateralis) is abnormal even with normal manual strength testing being normal. The disorder is linked to the DM2 locus at chromosome 3q21.[neuroweb.us]

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