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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.[ncbi.nlm.nih.gov] 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[books.google.com] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov]

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

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

  • Congenital Muscular Dystrophy

    Serum creatine kinase is usually elevated and biopsied muscle fibers show dystrophic changes and increased variability in fiber size with vacuolization.[disorders.eyes.arizona.edu] Laboratory studies may show that serum creatine kinase concentrations are normal or mildly increased.[orpha.net] Breathing difficulties may go unnoticed initially, and may be experienced prior to difficulties with walking.[disabled-world.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] This means that people may have frequent falls, and may have difficulty walking longer distances, climbing stairs and getting up from the floor.[musculardystrophyuk.org]

  • 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[ncbi.nlm.nih.gov] Patients with paramyotonia congenita may have a normal or slightly elevated creatine kinase level and/or normal or increased potassium level.[symptoma.com] 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[doi.org]

  • 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] 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[myositis.org]

  • 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] walking.[icdlist.com]

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

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