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25 Possible Causes for Angulated Fibers, Creatine Kinase Normal or Increased, Vacuolization

  • Oculo-Pharyngo-Distal Myopathy

    Before genetic testing was available, the diagnosis was based on muscle biopsy, which demonstrates rimmed vacuoles within the muscle fibers, small angulated fibers, and intranuclear[webeye.ophth.uiowa.edu] Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov]

  • Hyaline Body Myopathy

    All biopsies showed "myopathic" changes, angulated neurogenic fibers, and fiber type grouping.[ncbi.nlm.nih.gov] Enzyme histochemistry or immunostaining for these sarcolemmal proteins demonstrate strikingly numerous cytoplasmic vacuoles in Danon disease and X-linked myopathy with excessive[basicmedicalkey.com] In those with CCD, blood studies typically reveal normal or slightly increased levels of the enzyme creatine kinase in the fluid portion of the blood (except during a malignant[rarediseases.org]

  • Limb-Girdle Muscular Dystrophy Type 1G

    Scattered groups of small atrophic angulated fibers were also observed ( Figure 4a ).[doi.org] Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles.[mendelian.co] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[genecards.org]

  • Distal Myopathy Type 3

    Non-specific esterase: Neuromuscular junctions, myotendinous junctions, phagocytic areas, small angulated denervated fibers positive.[sites.google.com] 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]

  • Inclusion Body Myositis

    However, when muscle fibers shrink, they become angulated and, therefore, can be seen in myopathies.[jamanetwork.com] 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]

  • Secondary Myopathy

    fibers, moderate variations in myofiber diameter, centrally displaced nuclei, ring fibers, scattered atrophic fibers, nuclear chains, increase in endomysial tissue, and type[chanrejournals.com] 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]

  • Limb-Girdle Muscular Dystrophy

    angulated fibers Fiber type groups: Scattered Milder patients: May be normal Myofibrillar myopathy 3 (MFM3) Myotilin (Titin immunoglobulin domain protein (TTID); MYOT) 19[neuromuscular.wustl.edu] […] 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]

  • Polyglucosan Body Myopathy Type 2

    Non-specific esterase: Neuromuscular junctions, myotendinous junctions, phagocytic areas, small angulated denervated fibers positive.[sites.google.com] ; 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]

  • Myopathic Carnitine Deficiency

    Variability in fiber size with the presence of some angulated fibers and the characteristic rimmed vacuole in the center of the small fiber.[academic.oup.com] At the electron microscopic level, the predominant abnormality was the presence of lipid vacuoles between the myofibrils.[ncbi.nlm.nih.gov] However, creatine kinase (CK) levels were exceedingly high (8336 U/L), coupled with increased aspartate aminotransferase and lactate dehydrogenase levels that suggest rhabdomyolysis[medicalbag.com]

  • Granulomatous Myositis

    Groups of atrophic fibers (HE) Angulated atrophic fibers (HE) Fiber type grouping and targetoid fibers in neurogenic atrophy (ATPase) Type 2 fiber atrophy (HE) Type 2 fiber[librepathology.org] Serum creatine kinase level was normal. View larger version (59K) Fig. 27 — 68-year-old man with newly diagnosed Shulman's syndrome.[ajronline.org] Vacuoles and IBM Participant: I understand that currently the only definitive dx of IBM is if vacuoles are seen under an electron microscope.[myositis.org]

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