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114 Possible Causes for Creatine Kinase Normal or Increased, Difficulty Walking, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[] Walking and Ataxia 415 Case 66 A Man with Progressive Neuropathy and Congestive Heart Failure 422 Case 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young[] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[]

  • 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.[] Affected individuals often suffer from limb-girdle syndrome and claim walking difficulties.[]

  • 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.[] […] is usually unable to walk Frequent falls Difficulty getting up from the floor and climbing stairs Difficulty with running, hopping, and jumping Loss of muscle mass Toe walking[]

  • 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.[] The symptoms tend to progress slowly and include a loss of fine motor skills and difficulty walking.[]

  • Congenital Muscular Dystrophy

    Serum creatine kinase is usually elevated and biopsied muscle fibers show dystrophic changes and increased variability in fiber size with vacuolization.[] Laboratory studies may show that serum creatine kinase concentrations are normal or mildly increased.[] Breathing difficulties may go unnoticed initially, and may be experienced prior to difficulties with walking.[]

  • 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.[] This means that people may have frequent falls, and may have difficulty walking longer distances, climbing stairs and getting up from the floor.[]

  • Paramyotonia Congenita

    Signs of myopathy with central nuclei in the muscle cells were noted in 9 of the patients. 4 of these patients also had small areas with degeneration and, in one, vacuoles[] Patients with paramyotonia congenita may have a normal or slightly elevated creatine kinase level and/or normal or increased potassium level.[] CMAP amplitude decrement, consistent with PMC. 14 A muscle biopsy (performed in patient II:6 at age 37) showed a vacuolar myopathy with single large or multiple smaller vacuoles[]

  • 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.[] Labs including CBC, CMP, ANA, ESR, CRP, and TSH were normal. Serum creatine kinase was 6,500.[] Signs and symptoms Frequent falls Difficulty walking Trouble climbing stairs or standing from a seated position A foot that seems to drop when walking, causing tripping Weakened[]

  • 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[] walking.[]

  • 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.[] walking on heels, but was able to walkon toes.[]

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