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56 Possible Causes for Creatine Kinase Normal or Increased, Proximal Muscle Weakness of the Lower Extremity, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] : 24 weeks gestation thtrough adult Clinical Onset: Newborn with contractures (75%) Ophthalmoplegia Children: Mild upgaze paresis Adults: Complete Muscle weakness Proximal[neuromuscular.wustl.edu] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov]

  • Inclusion Body Myositis

    The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.[ncbi.nlm.nih.gov] Labs including CBC, CMP, ANA, ESR, CRP, and TSH were normal. Serum creatine kinase was 6,500.[n.neurology.org] Inclusion body myositis features a slowly progressive inflammatory myopathy characterized by progressive proximal muscle weakness in the lower extremities, followed by proximal[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy

    […] pathology Vacuoles/ultrastructure Substances Chromatin LMNA protein, human Lamin Type A MyoD Protein MyoD1 myogenic differentiation protein PAX7 Transcription Factor PAX7[ncbi.nlm.nih.gov] Patients with congenital and mitochondrial myopathies usually present normal creatine kinase levels, and frequent ptosis.[doi.org] The proband displayed major weakness in lower extremities that progressed and affected the upper proximal shoulder and girdle muscles.[humgenomics.biomedcentral.com]

  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[orpha.net] Weakness affects predominantly proximal muscles in the upper limbs and later distal weakness in the lower extremities causing foot drop unresponsive to steroids.[neuroweb.us]

  • Childhood Dermatomyositis

    Numerous dark-stained fibers and vacuoles were observed in periodic acid-Schiff (PAS) staining.[ijdvl.com] […] correlates with successful treatment); and (d) dynamic range (increases in creatine kinase with PM/DM are often 20–50 times normal).[rheumaknowledgy.com] Proximal muscle weakness (upper or lower extremity and trunk) 3. Elevated serum creatine kinase or aldolase level 4. Muscle pain on grasping or spontaneous pain 5.[aafp.org]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Pathologic findings in one of the patients showed rimmed vacuoles.[ncbi.nlm.nih.gov] kinase normal-to-moderate increase Genetic testing gold standard Slit-lamp examination to evaluate for cataracts classically posterior subcapsular cataracts Electrocardiogram[medbullets.com] Three of the four also had weakness in the proximal upper extremities (II:2, II:3, and II:8), while three individuals had weakness in the distal lower extremities (II:2, II[journals.plos.org]

  • Glycogen Storage Disease Type 2

    At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[ncbi.nlm.nih.gov] Laboratory results are significant for an elevated creatine kinase level of 1,423 U/L (normal 200 U/L). There was no increase of lactate on forearm nonischemic testing.[medbullets.com] weakness is variable, a rough correlation has been observed between measures of pulmonary function and proximal muscle weakness, particularly in the lower extremities. 47[dx.doi.org]

  • Amyloidosis

    Brains of aged adults show extensive vacuolation and staining by an amyloid-specific dye; expression in the eye results in observable neurodegeneration in both the eye and[flybase.org] kinase concentration slightly increased to normal 6, so the specialists recommended measuring monoclonal protein during the evaluation of a patient with proximal non-inflammatory[scielo.org.co] Left: Acute tubular damage, with vacuolization of tubular proximal cells, blebbing and tubular dilatation. (Masson's trichrome, X400).[kidneypathology.com]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G

    […] membrane in the vacuoles.[doi.org] Additionally, individuals with HMERF have proximal weakness of the upper and lower extremities, the neck flexors were involved and some had foot extensor weakness.[egl-eurofins.com] Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles.[mendelian.co]

  • Secondary Myopathy

    Sensorimotor neuropathy Hypothyroid (amiodarone) Elevated serum CK EMG: fibs, PSWs, myotonia (choroquine), myopathic MUAPs NCS: axonal sensorimotor neuropathy Autophagic vacuoles[neurology.mhmedical.com] In statin myopathies, the creatine kinase (CK) level may be normal or there may be asymptomatic CK increases. 8 With continued exposure to the toxin, the patient may develop[now.aapmr.org] On neurological examination, she had a proximal gradient of muscle weakness, moderate weakness of the upper extremities, 4 to 4 , and she was unable to flex her proximal lower[hopkinsarthritis.org]

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