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72 Possible Causes for Creatine Kinase Normal or Increased, Tongue Weakness, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] […] muscles Bulbar Dysphagia: Oropharyngeal Dysarthria: Hoarse & Nasal voice Tongue weakness Limbs Legs Arms Distal: Anterior tibial; Finger extensors Onset: 5 years after disease[neuromuscular.wustl.edu] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[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] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.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] Patients may have prominent tongue hypertrophy and severe weakness and wasting of upper arms, neck flexors, and axial muscles; these features can help in distinguishing this[emedicine.medscape.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] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • 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] Jones, Expanding the phenotype of late‐onset pompe disease: Tongue weakness: A new clinical observation, Muscle & Nerve, 44, 6, (897-901), (2011).[dx.doi.org]

  • 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] Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[rarediseases.org]

  • Limb-Girdle Muscular Dystrophy Type 1G

    […] membrane in the vacuoles.[doi.org] Patients may have prominent tongue hypertrophy and severe weakness and wasting of upper arms, neck flexors, and axial muscles; these features can help in distinguishing this[emedicine.medscape.com] Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles.[mendelian.co]

  • Secondary Myopathy

    Sensorimotor neuropathy Hypothyroid (amiodarone) Elevated serum CK EMG: fibs, PSWs, myotonia (choroquine), myopathic MUAPs NCS: axonal sensorimotor neuropathy Autophagic vacuoles[neurology.mhmedical.com] 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[now.aapmr.org] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com]

  • Polyglucosan Body Myopathy Type 2

    ; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy" .[en.wikipedia.org] normal.  Elevated levels of serum creatine kinase (CK) and aldolase suggest muscle involvement, but normal values do not exclude the future development of myopathy. 22.[slideshare.net] (ie, tongue and pharyngeal weakness) is manifested by symptoms of dysarthria and dysphagia.[sites.google.com]

  • Acquired Amyloid Myopathy

    Vacuoles rimmed with basophilic granules. Inclusion body myositis IBM. Vacuole filled with granules. Modified Gomori trichrome stain. Inclusion body myositis IBM.[neuropathology-web.org] Sensory examination was normal. Serum creatine kinase (CK) was increased to 1200 IU/L (six times normal).[clinicalgate.com] Symptoms can include: Swelling of ankles and legs Weakness Weight loss Shortness of breath Numbness or tingling in the hands or feet Diarrhea Severe fatigue Enlarged tongue[sinoemedicalassociation.org]

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