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48 Possible Causes for Creatine Kinase Normal or Increased, Gowers Sign, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Pelvic- will have Gower's Sign What is the initial weakness in Becker's MD? What is the initial weakness in FSH MD? What is the initial weakness in Myotonic MD?[brainscape.com] sign Myalgia Multiple mitochondrial DNA deletions Fatigue Ataxia Ragged-red muscle fibers Glaucoma Feeding difficulties Flexion contracture High palate Hearing impairment[mendelian.co]

  • 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] Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5.[lecturio.com]

  • 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] The patient presented unmistakable signs of muscular atrophy in the upper and lower limbs, as well as positive Gowers' sign. Levels of creatinkinase in serum were high.[ncbi.nlm.nih.gov]

  • Muscular Dystrophy

    Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation . J Neurol Sci, 1981; 51: 141–155.[link.springer.com] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[orpha.net] ’s sign of proximal muscle weakness 1.[radiopaedia.org]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 6

    […] organic aciduria (i.e., large amounts of lactic, 3-hydroxy-butyric, beta-hydroxy-butyric, fumaric, malic, succinic, and, often, 3-methyl-glutaconic acids), together with cytoplasmic[path.upmc.edu] The results of routine laboratory tests were normal, including serum creatine kinase concentrations in the resting state.[nejm.org] Gowers sign MedGen UID: 108389 • Concept ID: C0575071 • Finding A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the[ncbi.nlm.nih.gov]

  • 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] "Calf heads on a trophy sign" was present and Gowers' sign was positive [Figure 1] a-d and [Figure 2] a and b]. The tendon reflexes were present and symmetric.[ruralneuropractice.com]

  • 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] We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle[ncbi.nlm.nih.gov]

  • Sarcotubular Myopathy

    The vacuoles are similar to those described in sarcotubular myopathy. TRIM32 sequencing revealed the common c.1459G A mutation at homozygosity.[ncbi.nlm.nih.gov] Asymptomatic individuals may also present with a high creatine kinase (CK) level or malignant hyperthermia.[slideshare.net] sign.[docslide.com.br]

  • Nemaline Myopathy Type 4

    Congenital muscular dystrophy Congenital myasthenic syndrome Congenital myopathy Desminopathy Distal ABD-filaminopathy Distal anoctaminopathy Distal myopathy with rimmed vacuoles[mayomedicallaboratories.com] Laboratory analysis The levels of creatine kinase (CK), aldolase (AL) and lactate dehydrogenase (LDH) were recorded as a proportion reflecting their increase above normal[scielo.br] sign Easy fatigability Toe walking Neurological speech impairment Dilatation Waddling gait Type 1 muscle fiber predominance Generalized muscle weakness Abnormality of the[mendelian.co]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G

    […] membrane in the vacuoles.[doi.org] Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.[orpha.net] Frequent falls Fatty replacement of skeletal muscle Increased endomysial connective tissue Hyporeflexia Milia Progressive Waddling gait Myofibrillar myopathy Facial palsy Gowers[mendelian.co]

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