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62 Possible Causes for Creatine Kinase Normal or Increased, Facial Muscle Atrophy, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Weakness in masseter, facial, and bulbar muscles have been observed but no muscle group seems to be spared. Atrophy of facial muscles is common and may be pronounced.[disorders.eyes.arizona.edu] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov]

  • 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] There is early weakness and atrophy of forearms and quadriceps and a third of patients also have mild facial weakness.[ncbi.nlm.nih.gov] Labs including CBC, CMP, ANA, ESR, CRP, and TSH were normal. Serum creatine kinase was 6,500.[n.neurology.org]

  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] Marked facial weakness is observed in these patients with congenital myopathies. [2] Spinal Muscular Atrophy Distal spinal muscular atrophy is an autosomal recessive infantile[explainmedicine.com] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[orpha.net]

  • 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] Both calves were mildly atrophied. The strengthof the facial muscles was preserved. There was no actionor percussion myotonia, or muscle rippling.[documents.tips] Asymptomatic individuals may also present with a high creatine kinase (CK) level or malignant hyperthermia.[slideshare.net]

  • 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] […] of the pelvic girdle muscles (Leyden in 1876), scapulohumeral muscular atrophy (Erb in 1884), and myopathy with facial weakness (Landouzy and Dejerine in 1884).1 The term[dash.harvard.edu] Patients with congenital and mitochondrial myopathies usually present normal creatine kinase levels, and frequent ptosis.[doi.org]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Pathologic findings in one of the patients showed rimmed vacuoles.[ncbi.nlm.nih.gov] Atrophy and weakness of facial muscles, ptosis, and frontal baldness produce a characteristic facial appearance.[neuropathology-web.org] kinase normal-to-moderate increase Genetic testing gold standard Slit-lamp examination to evaluate for cataracts classically posterior subcapsular cataracts Electrocardiogram[medbullets.com]

  • Limb-Girdle Muscular Dystrophy Type 1G

    […] membrane in the vacuoles.[doi.org] […] weakness in upper limbs Difficulty standing Reduced vital capacity Absent Achilles reflex Facial hypotonia Genu recurvatum Myositis Unsteady gait Muscle fiber necrosis Proximal[mendelian.co] There is proximal muscle weakness (pelvic and/or shoulder girdle) with atrophy and sparing of facial and neck muscles.[annalsofian.org]

  • 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] Weakness affects most severely muscles that are innervated by brain stem nuclei, such as extraocular and facial muscles, and causes drooping of the eyelids, diplopia, and[neuropathology-web.org] 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]

  • 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] There is weakness of the facial muscles, and atrophy of the temporalis, masseter, and sternocleidomastoid muscles, leading to a characteristic hatchet-face appearance.[nature.com] Sensory examination was normal. Serum creatine kinase (CK) was increased to 1200 IU/L (six times normal).[clinicalgate.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] The following features are however constantly present: atrophy of the intrinsic hand muscles, facial muscle involvement, myotonia and dystrophic changes in nonmuscular tissue[neuroweb.us]

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