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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.[] 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?[] sign Myalgia Multiple mitochondrial DNA deletions Fatigue Ataxia Ragged-red muscle fibers Glaucoma Feeding difficulties Flexion contracture High palate Hearing impairment[]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Pathologic findings in one of the patients showed rimmed vacuoles.[] kinase normal-to-moderate increase Genetic testing gold standard Slit-lamp examination to evaluate for cataracts classically posterior subcapsular cataracts Electrocardiogram[] Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5.[]

  • Glycogen Storage Disease Type 2

    At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[] 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.[] 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.[]

  • Muscular Dystrophy

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

  • 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[] The results of routine laboratory tests were normal, including serum creatine kinase concentrations in the resting state.[] 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[]

  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[] "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.[]

  • 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[] Patients with congenital and mitochondrial myopathies usually present normal creatine kinase levels, and frequent ptosis.[] 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[]

  • Sarcotubular Myopathy

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

  • Nemaline Myopathy Type 4

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

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G

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

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