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144 Possible Causes for Creatine Kinase Normal or Increased, Muscle Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[] Oculopharyngodistal myopathy is an extremely rare disease characterised by slowly progressive blepharoptosis, facial and bulbar muscle weakness and distal leg myopathy.[] The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since[]

  • Inclusion Body Myositis

    We have identified several patients with sIBM in our cohort with muscle weakness of the flexors but not the quadriceps femoris.[] The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.[] Labs including CBC, CMP, ANA, ESR, CRP, and TSH were normal. Serum creatine kinase was 6,500.[]

  • Distal Myopathy Type 3

    Polyglucosan body myopathy : Late-onset progressive weakness (50s and 60s) affecting proximal limb muscles, increasing distal paresis and only slight weakness of the proximal[] 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.[]

  • Limb-Girdle Muscular Dystrophy

    However, most patients in the current family showed distal as well as proximal limb weakness rather than weakness of toe and finger flexor muscles that were typical features[] […] 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.[]

  • Glycogen Storage Disease Type 2

    Dyspnea secondary to diaphragm or respiratory muscle weakness may also be observed.[] 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.[]

  • 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.[] […] had nonprogressive muscle weakness since infancy.[]

  • Secondary Myopathy

    Muscle weakness is a common complaint among patients presenting to family physicians.[] Sensorimotor neuropathy Hypothyroid (amiodarone) Elevated serum CK EMG: fibs, PSWs, myotonia (choroquine), myopathic MUAPs NCS: axonal sensorimotor neuropathy Autophagic vacuoles[] 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[]

  • Limb-Girdle Muscular Dystrophy Type 1E

    […] tone (hypotonia) and muscle weakness at birth.[] 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[]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G

    Muscle weakness may spread from the proximal muscles to affect distal muscles.[] […] membrane in the vacuoles.[] Distal muscle weakness may occur later.[]

  • Myopathic Carnitine Deficiency

    Muscle weakness is a common complaint among patients presenting to family physicians.[] At the electron microscopic level, the predominant abnormality was the presence of lipid vacuoles between the myofibrils.[] However, creatine kinase (CK) levels were exceedingly high (8336 U/L), coupled with increased aspartate aminotransferase and lactate dehydrogenase levels that suggest rhabdomyolysis[]

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